Canonical Allele Identifier: CA2639883216

Gene: GALK1

Linked Data

• ClinVar Variation Id: 2808087
• ClinVar RCV Id: RCV003613577
• gnomAD v4: 17-75764952-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75764952C>A , CM000679.2:g.75764952C>A	GRCh38
NC_000017.10:g.73761033C>A , CM000679.1:g.73761033C>A	GRCh37
NC_000017.9:g.71272628C>A	NCBI36
NG_008079.1:g.5248G>T
NG_008079.2:g.5248G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000587707.2:c.165+20G>T	ENSP00000468341.2:n.165+20G>T
ENST00000592997.6:c.165+20G>T	ENSP00000464765.2:n.165+20G>T
ENST00000588479.6:c.165+20G>T MANE Select	ENSP00000465930.1:n.165+20G>T
ENST00000225614.6:c.165+20G>T	ENSP00000225614.1:n.165+20G>T
ENST00000586244.1:c.165+20G>T	ENSP00000468288.1:n.165+20G>T
ENST00000588479.5:c.165+20G>T	ENSP00000465930.1:n.165+20G>T
ENST00000589030.1:n.162+20G>T
ENST00000592494.1:n.186+20G>T
NM_000154.1:c.165+20G>T	NP_000145.1:n.165+20G>T
NM_000154.2:c.165+20G>T MANE Select	NP_000145.1:n.165+20G>T
NM_001381985.1:c.165+20G>T	NP_001368914.1:n.165+20G>T