Canonical Allele Identifier: CA401102753

Gene: GALK1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75762722G>A , CM000679.2:g.75762722G>A	GRCh38
NC_000017.10:g.73758803G>A , CM000679.1:g.73758803G>A	GRCh37
NC_000017.9:g.71270398G>A	NCBI36
NG_008079.1:g.7478C>T
NG_008079.2:g.7478C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000154.2:c.775C>T MANE Select	NP_000145.1:p.Gln259Ter
ENST00000588479.6:c.775C>T MANE Select	ENSP00000465930.1:p.Gln259Ter
NM_000154.1:c.775C>T	NP_000145.1:p.Gln259Ter
NM_001381985.1:c.775C>T	NP_001368914.1:p.Gln259Ter
ENST00000225614.6:c.775C>T	ENSP00000225614.1:p.Gln259Ter
ENST00000587707.1:c.561C>T	ENSP00000468341.1:n.561C>T
ENST00000587707.2:c.807C>T	ENSP00000468341.2:n.807C>T
ENST00000588479.5:c.775C>T	ENSP00000465930.1:p.Gln259Ter
ENST00000592494.1:n.1094C>T
ENST00000592997.5:c.151C>T	ENSP00000464765.1:p.Gln51Ter
ENST00000592997.6:c.685C>T	ENSP00000464765.2:p.Gln229Ter