Canonical Allele Identifier: CA390748000

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968421T>G , CM000676.2:g.87968421T>G	GRCh38
NC_000014.8:g.88434765T>G , CM000676.1:g.88434765T>G	GRCh37
NC_000014.7:g.87504518T>G	NCBI36
NG_011853.2:g.30143A>C
NG_011853.3:g.30143A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.822A>C MANE Select	NP_000144.2:p.Glu274Asp
ENST00000261304.7:c.822A>C MANE Select	ENSP00000261304.2:p.Glu274Asp
NM_000153.3:c.822A>C	NP_000144.2:p.Glu274Asp
NM_001201401.1:c.753A>C	NP_001188330.1:p.Glu251Asp
NM_001201401.2:c.753A>C	NP_001188330.1:p.Glu251Asp
NM_001201402.1:c.744A>C	NP_001188331.1:p.Glu248Asp
NM_001201402.2:c.744A>C	NP_001188331.1:p.Glu248Asp
ENST00000261304.6:c.822A>C	ENSP00000261304.2:p.Glu274Asp
ENST00000393568.8:c.753A>C	ENSP00000377198.4:p.Glu251Asp
ENST00000393569.6:c.744A>C	ENSP00000377199.2:p.Glu248Asp
ENST00000474294.6:n.812A>C
ENST00000477716.3:n.577A>C
ENST00000544807.6:c.654A>C	ENSP00000437513.2:p.Glu218Asp
ENST00000555000.5:c.189A>C	ENSP00000450472.1:p.Glu63Asp
ENST00000557316.5:c.*220A>C	ENSP00000452314.1:n.*220A>C
ENST00000622264.4:c.812A>C
XM_011536618.1:c.654A>C	XP_011534920.1:p.Glu218Asp
XM_011536618.2:c.654A>C	XP_011534920.1:p.Glu218Asp