Canonical Allele Identifier: CA8770753

Gene: GALK1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75758272C>T , CM000679.2:g.75758272C>T	GRCh38
NC_000017.10:g.73754353C>T , CM000679.1:g.73754353C>T	GRCh37
NC_000017.9:g.71265948C>T	NCBI36
NG_007372.1:g.41838C>T
NG_008079.1:g.11928G>A
NG_008079.2:g.11928G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000154.2:c.1045G>A MANE Select	NP_000145.1:p.Gly349Ser
ENST00000588479.6:c.1045G>A MANE Select	ENSP00000465930.1:p.Gly349Ser
NM_000154.1:c.1045G>A	NP_000145.1:p.Gly349Ser
NM_001381985.1:c.1045G>A	NP_001368914.1:p.Gly349Ser
ENST00000225614.6:c.1045G>A	ENSP00000225614.1:p.Gly349Ser
ENST00000586733.1:n.247G>A
ENST00000588479.5:c.1045G>A	ENSP00000465930.1:p.Gly349Ser
ENST00000589643.1:n.160+88G>A
ENST00000592997.5:c.421G>A	ENSP00000464765.1:p.Gly141Ser
ENST00000592997.6:c.955G>A	ENSP00000464765.2:p.Gly319Ser