Canonical Allele Identifier: CA2275671706

Gene: GALK1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75764716G= , CM000679.2:g.75764716G=	GRCh38
NC_000017.10:g.73760797G= , CM000679.1:g.73760797G=	GRCh37
NC_000017.9:g.71272392G=	NCBI36
NG_008079.1:g.5484C=
NG_008079.2:g.5484C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587707.2:c.165+256C=	ENSP00000468341.2:n.165+256C=
ENST00000592997.6:c.165+256C=	ENSP00000464765.2:n.165+256C=
ENST00000588479.6:c.165+256C= MANE Select	ENSP00000465930.1:n.165+256C=
ENST00000225614.6:c.165+256C=	ENSP00000225614.1:n.165+256C=
ENST00000586244.1:c.165+256C=	ENSP00000468288.1:n.165+256C=
ENST00000588479.5:c.165+256C=	ENSP00000465930.1:n.165+256C=
ENST00000589030.1:n.162+256C=
ENST00000592494.1:n.186+256C=
NM_000154.1:c.165+256C=	NP_000145.1:n.165+256C=
NM_000154.2:c.165+256C= MANE Select	NP_000145.1:n.165+256C=
NM_001381985.1:c.165+256C=	NP_001368914.1:n.165+256C=