Canonical Allele Identifier: CA401102662

Gene: GALK1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75762713C>A , CM000679.2:g.75762713C>A	GRCh38
NC_000017.10:g.73758794C>A , CM000679.1:g.73758794C>A	GRCh37
NC_000017.9:g.71270389C>A	NCBI36
NG_008079.1:g.7487G>T
NG_008079.2:g.7487G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000154.2:c.784G>T MANE Select	NP_000145.1:p.Glu262Ter
ENST00000588479.6:c.784G>T MANE Select	ENSP00000465930.1:p.Glu262Ter
NM_000154.1:c.784G>T	NP_000145.1:p.Glu262Ter
NM_001381985.1:c.784G>T	NP_001368914.1:p.Glu262Ter
ENST00000225614.6:c.784G>T	ENSP00000225614.1:p.Glu262Ter
ENST00000587707.1:c.570G>T	ENSP00000468341.1:n.570G>T
ENST00000587707.2:c.816G>T	ENSP00000468341.2:n.816G>T
ENST00000588479.5:c.784G>T	ENSP00000465930.1:p.Glu262Ter
ENST00000592494.1:n.1103G>T
ENST00000592997.5:c.160G>T	ENSP00000464765.1:p.Glu54Ter
ENST00000592997.6:c.694G>T	ENSP00000464765.2:p.Glu232Ter