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Human (GRCh37.p13)
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.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
AMMECR1-001ENST00000262844.55504333aaENSP00000262844.5
 
Protein coding
CCDS14551Q9Y4X0 NM_015365
NP_056180
GENCODE basic
AMMECR1-002ENST00000372057.13380210aaENSP00000361127.1
 
Protein coding
CCDS55476Q9Y4X0 NM_001171689
NP_001165160
GENCODE basic
AMMECR1-005ENST00000372059.23052296aaENSP00000361129.2
 
Protein coding
CCDS35368Q9Y4X0 NM_001025580
NP_001020751
GENCODE basic
AMMECR1-004ENST00000496695.1546No protein-
 
Processed transcript
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AMMECR1-003ENST00000473662.1418No protein-
 
Processed transcript
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Gene-based displays