Canonical Allele Identifier: CA8770810

Gene: GALK1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75758552C>T , CM000679.2:g.75758552C>T	GRCh38
NC_000017.10:g.73754633C>T , CM000679.1:g.73754633C>T	GRCh37
NC_000017.9:g.71266228C>T	NCBI36
NG_007372.1:g.42118C>T
NG_008079.1:g.11648G>A
NG_008079.2:g.11648G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000154.2:c.841G>A MANE Select	NP_000145.1:p.Val281Met
ENST00000588479.6:c.841G>A MANE Select	ENSP00000465930.1:p.Val281Met
NM_000154.1:c.841G>A	NP_000145.1:p.Val281Met
NM_001381985.1:c.841G>A	NP_001368914.1:p.Val281Met
ENST00000225614.6:c.841G>A	ENSP00000225614.1:p.Val281Met
ENST00000587707.1:c.627G>A	ENSP00000468341.1:n.627G>A
ENST00000587707.2:c.873G>A	ENSP00000468341.2:n.873G>A
ENST00000588479.5:c.841G>A	ENSP00000465930.1:p.Val281Met
ENST00000592997.5:c.217G>A	ENSP00000464765.1:p.Val73Met
ENST00000592997.6:c.751G>A	ENSP00000464765.2:p.Val251Met