Canonical Allele Identifier: CA346335687

Gene: GALM

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38681358G>C , CM000664.2:g.38681358G>C	GRCh38
NC_000002.11:g.38908500G>C , CM000664.1:g.38908500G>C	GRCh37
NC_000002.10:g.38762004G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_138801.3:c.424G>C MANE Select	NP_620156.1:p.Gly142Arg
ENST00000272252.10:c.424G>C MANE Select	ENSP00000272252.5:p.Gly142Arg
NM_138801.2:c.424G>C	NP_620156.1:p.Gly142Arg
ENST00000272252.9:c.424G>C	ENSP00000272252.5:p.Gly142Arg
ENST00000410063.5:c.190+15007G>C	ENSP00000386233.1:n.190+15007G>C
ENST00000434934.1:c.64G>C	ENSP00000399473.1:p.Gly22Arg
ENST00000444351.5:c.343G>C	ENSP00000409083.1:p.Gly115Arg
XM_011532540.1:c.424G>C	XP_011530842.1:p.Gly142Arg
XM_011532540.2:c.424G>C	XP_011530842.1:p.Gly142Arg
XR_244925.1:n.676G>C
XR_244925.2:n.664G>C