Canonical Allele Identifier: CA775082182

Gene: GALK1

Linked Data

• dbSNP Id: rs1379467969
• gnomAD v4: 17-75764961-C-T
• MyVariant Identifiers: chr17:g.73761042C>T (hg19) ; chr17:g.75764961C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75764961C>T , CM000679.2:g.75764961C>T	GRCh38
NC_000017.10:g.73761042C>T , CM000679.1:g.73761042C>T	GRCh37
NC_000017.9:g.71272637C>T	NCBI36
NG_008079.1:g.5239G>A
NG_008079.2:g.5239G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000587707.2:c.165+11G>A	ENSP00000468341.2:n.165+11G>A
ENST00000592997.6:c.165+11G>A	ENSP00000464765.2:n.165+11G>A
ENST00000588479.6:c.165+11G>A MANE Select	ENSP00000465930.1:n.165+11G>A
ENST00000225614.6:c.165+11G>A	ENSP00000225614.1:n.165+11G>A
ENST00000586244.1:c.165+11G>A	ENSP00000468288.1:n.165+11G>A
ENST00000588479.5:c.165+11G>A	ENSP00000465930.1:n.165+11G>A
ENST00000589030.1:n.162+11G>A
ENST00000592494.1:n.186+11G>A
NM_000154.1:c.165+11G>A	NP_000145.1:n.165+11G>A
NM_000154.2:c.165+11G>A MANE Select	NP_000145.1:n.165+11G>A
NM_001381985.1:c.165+11G>A	NP_001368914.1:n.165+11G>A