Gene: AMMECR1 ENSG00000101935

Description

Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 [Source:HGNC Symbol;Acc:467]

Gene Synonyms

AMMERC1

Location

Chromosome X: 109,437,414-109,683,461 reverse strand.

GRCh37:CM000685.1

About this gene

This gene has 5 transcripts (splice variants), 1 paralogue and is associated with 2 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000262844.5	AMMECR1-001	5504	333aa	ENSP00000262844.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS14551	Q9Y4X0	NM_015365.2	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000372057.1	AMMECR1-002	3380	210aa	ENSP00000361127.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS55476	Q9Y4X0	NM_001171689.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000372059.2	AMMECR1-005	3052	296aa	ENSP00000361129.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS35368	Q9Y4X0	NM_001025580.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000496695.1	AMMECR1-004	546	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000473662.1	AMMECR1-003	418	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

EMBL-EBI User Survey 2024

Gene: AMMECR1 ENSG00000101935

Summary

EMBL-EBI User Survey 2024

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Gene: AMMECR1 ENSG00000101935

Summary