Canonical Allele Identifier: CA401105488

Gene: GALK1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75763389C>G , CM000679.2:g.75763389C>G	GRCh38
NC_000017.10:g.73759470C>G , CM000679.1:g.73759470C>G	GRCh37
NC_000017.9:g.71271065C>G	NCBI36
NG_008079.1:g.6811G>C
NG_008079.2:g.6811G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000154.2:c.406G>C MANE Select	NP_000145.1:p.Gly136Arg
ENST00000588479.6:c.406G>C MANE Select	ENSP00000465930.1:p.Gly136Arg
NM_000154.1:c.406G>C	NP_000145.1:p.Gly136Arg
NM_001381985.1:c.406G>C	NP_001368914.1:p.Gly136Arg
ENST00000225614.6:c.406G>C	ENSP00000225614.1:p.Gly136Arg
ENST00000586244.1:c.*130G>C	ENSP00000468288.1:n.*130G>C
ENST00000587707.1:c.160G>C	ENSP00000468341.1:p.Gly54Arg
ENST00000587707.2:c.406G>C	ENSP00000468341.2:p.Gly136Arg
ENST00000588479.5:c.406G>C	ENSP00000465930.1:p.Gly136Arg
ENST00000589030.1:n.860G>C
ENST00000592494.1:n.427G>C
ENST00000592997.6:c.406G>C	ENSP00000464765.2:p.Gly136Arg