Canonical Allele Identifier: CA8770915

Gene: GALK1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75763115A>T , CM000679.2:g.75763115A>T	GRCh38
NC_000017.10:g.73759196A>T , CM000679.1:g.73759196A>T	GRCh37
NC_000017.9:g.71270791A>T	NCBI36
NG_008079.1:g.7085T>A
NG_008079.2:g.7085T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000154.2:c.510T>A MANE Select	NP_000145.1:p.Cys170Ter
ENST00000588479.6:c.510T>A MANE Select	ENSP00000465930.1:p.Cys170Ter
NM_000154.1:c.510T>A	NP_000145.1:p.Cys170Ter
NM_001381985.1:c.510T>A	NP_001368914.1:p.Cys170Ter
ENST00000225614.6:c.510T>A	ENSP00000225614.1:p.Cys170Ter
ENST00000586244.1:c.*404T>A	ENSP00000468288.1:n.*404T>A
ENST00000587707.1:c.296T>A	ENSP00000468341.1:n.296T>A
ENST00000587707.2:c.542T>A	ENSP00000468341.2:n.542T>A
ENST00000588479.5:c.510T>A	ENSP00000465930.1:p.Cys170Ter
ENST00000592494.1:n.701T>A
ENST00000592997.6:c.510T>A	ENSP00000464765.2:p.Cys170Ter