Canonical Allele Identifier: CA401104809

Gene: GALK1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75763146G>T , CM000679.2:g.75763146G>T	GRCh38
NC_000017.10:g.73759227G>T , CM000679.1:g.73759227G>T	GRCh37
NC_000017.9:g.71270822G>T	NCBI36
NG_008079.1:g.7054C>A
NG_008079.2:g.7054C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000154.2:c.479C>A MANE Select	NP_000145.1:p.Ser160Ter
ENST00000588479.6:c.479C>A MANE Select	ENSP00000465930.1:p.Ser160Ter
NM_000154.1:c.479C>A	NP_000145.1:p.Ser160Ter
NM_001381985.1:c.479C>A	NP_001368914.1:p.Ser160Ter
ENST00000225614.6:c.479C>A	ENSP00000225614.1:p.Ser160Ter
ENST00000586244.1:c.*373C>A	ENSP00000468288.1:n.*373C>A
ENST00000587707.1:c.265C>A	ENSP00000468341.1:p.Arg89=
ENST00000587707.2:c.511C>A	ENSP00000468341.2:p.Arg171=
ENST00000588479.5:c.479C>A	ENSP00000465930.1:p.Ser160Ter
ENST00000592494.1:n.670C>A
ENST00000592997.6:c.479C>A	ENSP00000464765.2:p.Ser160Ter