Canonical Allele Identifier: CA264688612

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87950723C>T , CM000676.2:g.87950723C>T	GRCh38
NC_000014.8:g.88417067C>T , CM000676.1:g.88417067C>T	GRCh37
NC_000014.7:g.87486820C>T	NCBI36
NG_011853.2:g.47841G>A
NG_011853.3:g.47841G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1187G>A MANE Select	NP_000144.2:p.Arg396Gln
ENST00000261304.7:c.1187G>A MANE Select	ENSP00000261304.2:p.Arg396Gln
NM_000153.3:c.1187G>A	NP_000144.2:p.Arg396Gln
NM_001201401.1:c.1118G>A	NP_001188330.1:p.Arg373Gln
NM_001201401.2:c.1118G>A	NP_001188330.1:p.Arg373Gln
NM_001201402.1:c.1109G>A	NP_001188331.1:p.Arg370Gln
NM_001201402.2:c.1109G>A	NP_001188331.1:p.Arg370Gln
ENST00000261304.6:c.1187G>A	ENSP00000261304.2:p.Arg396Gln
ENST00000393568.8:c.1118G>A	ENSP00000377198.4:p.Arg373Gln
ENST00000393569.6:c.1109G>A	ENSP00000377199.2:p.Arg370Gln
ENST00000544807.6:c.1019G>A	ENSP00000437513.2:p.Arg340Gln
ENST00000555000.5:c.554G>A	ENSP00000450472.1:p.Arg185Gln
ENST00000557316.5:c.*585G>A	ENSP00000452314.1:n.*585G>A
XM_011536618.1:c.1019G>A	XP_011534920.1:p.Arg340Gln
XM_011536618.2:c.1019G>A	XP_011534920.1:p.Arg340Gln