Human (GRCh37.p13)
Description

galactokinase 1 [Source:HGNC Symbol;Acc:4118]

Gene Synonyms

GALK, GK1, HEL-S-19

Location

Chromosome 17: 73,747,675-73,761,792 reverse strand.

GRCh37:CM000679.1

About this gene

This gene has 10 transcripts (splice variants), 1 paralogue and is associated with 5 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000588479.1GALK1-0011866392aaENSP00000465930.1
 
Protein coding
CCDS11728C8CHJ6 P51570 Q71UH7
-GENCODE basic
ENST00000225614.2GALK1-0021445392aaENSP00000225614.1
 
Protein coding
CCDS11728C8CHJ6 P51570 Q71UH7
-GENCODE basic
ENST00000437911.1GALK1-2011379422aaENSP00000406305.1
 
Protein coding
B4E1G6 C8CHJ6 Q71UH7
NM_000154.1GENCODE basic
ENST00000592997.1GALK1-007717184aaENSP00000464765.1
 
Protein coding
K7EII7 -CDS 5' incomplete
ENST00000586244.1GALK1-0031180120aaENSP00000468288.1
 
Nonsense mediated decay
K7ERJ9 --
ENST00000587707.1GALK1-00666791aaENSP00000468341.1
 
Nonsense mediated decay
K7ERN9 -CDS 5' incomplete
ENST00000592494.1GALK1-0041121No protein-
 
Retained intron
---
ENST00000589030.1GALK1-005866No protein-
 
Retained intron
---
ENST00000586733.1GALK1-008465No protein-
 
Retained intron
---
ENST00000589643.1GALK1-009313No protein-
 
Retained intron
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