Canonical Allele Identifier: CA2576392163

Gene: GALK1

Linked Data

• gnomAD v4: 17-75762952-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75762952C>T , CM000679.2:g.75762952C>T	GRCh38
NC_000017.10:g.73759033C>T , CM000679.1:g.73759033C>T	GRCh37
NC_000017.9:g.71270628C>T	NCBI36
NG_008079.1:g.7248G>A
NG_008079.2:g.7248G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000587707.2:c.643+62G>A	ENSP00000468341.2:n.643+62G>A
ENST00000592997.6:c.611+62G>A	ENSP00000464765.2:n.611+62G>A
ENST00000588479.6:c.611+62G>A MANE Select	ENSP00000465930.1:n.611+62G>A
ENST00000225614.6:c.611+62G>A	ENSP00000225614.1:n.611+62G>A
ENST00000586244.1:c.*567G>A	ENSP00000468288.1:n.*567G>A
ENST00000587707.1:c.397+62G>A	ENSP00000468341.1:n.397+62G>A
ENST00000588479.5:c.611+62G>A	ENSP00000465930.1:n.611+62G>A
ENST00000592494.1:n.864G>A
ENST00000592997.5:c.77+62G>A	ENSP00000464765.1:n.77+62G>A
NM_000154.1:c.611+62G>A	NP_000145.1:n.611+62G>A
NM_000154.2:c.611+62G>A MANE Select	NP_000145.1:n.611+62G>A
NM_001381985.1:c.611+62G>A	NP_001368914.1:n.611+62G>A