Canonical Allele Identifier: CA294089013

Gene: GALK1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75763013C>A , CM000679.2:g.75763013C>A	GRCh38
NC_000017.10:g.73759094C>A , CM000679.1:g.73759094C>A	GRCh37
NC_000017.9:g.71270689C>A	NCBI36
NG_008079.1:g.7187G>T
NG_008079.2:g.7187G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000154.2:c.611+1G>T MANE Select	NP_000145.1:n.611+1G>T
ENST00000588479.6:c.611+1G>T MANE Select	ENSP00000465930.1:n.611+1G>T
NM_000154.1:c.611+1G>T	NP_000145.1:n.611+1G>T
NM_001381985.1:c.611+1G>T	NP_001368914.1:n.611+1G>T
ENST00000225614.6:c.611+1G>T	ENSP00000225614.1:n.611+1G>T
ENST00000586244.1:c.*506G>T	ENSP00000468288.1:n.*506G>T
ENST00000587707.1:c.397+1G>T	ENSP00000468341.1:n.397+1G>T
ENST00000587707.2:c.643+1G>T	ENSP00000468341.2:n.643+1G>T
ENST00000588479.5:c.611+1G>T	ENSP00000465930.1:n.611+1G>T
ENST00000592494.1:n.803G>T
ENST00000592997.5:c.77+1G>T	ENSP00000464765.1:n.77+1G>T
ENST00000592997.6:c.611+1G>T	ENSP00000464765.2:n.611+1G>T