Canonical Allele Identifier: CA8770928

Gene: GALK1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75763151T>C , CM000679.2:g.75763151T>C	GRCh38
NC_000017.10:g.73759232T>C , CM000679.1:g.73759232T>C	GRCh37
NC_000017.9:g.71270827T>C	NCBI36
NG_008079.1:g.7049A>G
NG_008079.2:g.7049A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000154.2:c.476-2A>G MANE Select	NP_000145.1:n.476-2A>G
ENST00000588479.6:c.476-2A>G MANE Select	ENSP00000465930.1:n.476-2A>G
NM_000154.1:c.476-2A>G	NP_000145.1:n.476-2A>G
NM_001381985.1:c.476-2A>G	NP_001368914.1:n.476-2A>G
ENST00000225614.6:c.476-2A>G	ENSP00000225614.1:n.476-2A>G
ENST00000586244.1:c.*368A>G	ENSP00000468288.1:n.*368A>G
ENST00000587707.1:c.260A>G	ENSP00000468341.1:p.Gln87Arg
ENST00000587707.2:c.506A>G	ENSP00000468341.2:p.Gln169Arg
ENST00000588479.5:c.476-2A>G	ENSP00000465930.1:n.476-2A>G
ENST00000592494.1:n.665A>G
ENST00000592997.6:c.476-2A>G	ENSP00000464765.2:n.476-2A>G