Canonical Allele Identifier: CA8770840

Gene: GALK1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75762750C>T , CM000679.2:g.75762750C>T	GRCh38
NC_000017.10:g.73758831C>T , CM000679.1:g.73758831C>T	GRCh37
NC_000017.9:g.71270426C>T	NCBI36
NG_008079.1:g.7450G>A
NG_008079.2:g.7450G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000154.2:c.747G>A MANE Select	NP_000145.1:p.Ala249=
ENST00000588479.6:c.747G>A MANE Select	ENSP00000465930.1:p.Ala249=
NM_000154.1:c.747G>A	NP_000145.1:p.Ala249=
NM_001381985.1:c.747G>A	NP_001368914.1:p.Ala249=
ENST00000225614.6:c.747G>A	ENSP00000225614.1:p.Ala249=
ENST00000587707.1:c.533G>A	ENSP00000468341.1:n.533G>A
ENST00000587707.2:c.779G>A	ENSP00000468341.2:n.779G>A
ENST00000588479.5:c.747G>A	ENSP00000465930.1:p.Ala249=
ENST00000592494.1:n.1066G>A
ENST00000592997.5:c.123G>A	ENSP00000464765.1:p.Ala41=
ENST00000592997.6:c.657G>A	ENSP00000464765.2:p.Ala219=