Canonical Allele Identifier: CA274999

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945680C>T , CM000676.2:g.87945680C>T	GRCh38
NC_000014.8:g.88412024C>T , CM000676.1:g.88412024C>T	GRCh37
NC_000014.7:g.87481777C>T	NCBI36
NG_011853.2:g.52884G>A
NG_011853.3:g.52884G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1543G>A MANE Select	NP_000144.2:p.Glu515Lys
ENST00000261304.7:c.1543G>A MANE Select	ENSP00000261304.2:p.Glu515Lys
NM_000153.3:c.1543G>A	NP_000144.2:p.Glu515Lys
NM_001201401.1:c.1474G>A	NP_001188330.1:p.Glu492Lys
NM_001201401.2:c.1474G>A	NP_001188330.1:p.Glu492Lys
NM_001201402.1:c.1465G>A	NP_001188331.1:p.Glu489Lys
NM_001201402.2:c.1465G>A	NP_001188331.1:p.Glu489Lys
ENST00000261304.6:c.1543G>A	ENSP00000261304.2:p.Glu515Lys
ENST00000393568.8:c.1474G>A	ENSP00000377198.4:p.Glu492Lys
ENST00000393569.6:c.1465G>A	ENSP00000377199.2:p.Glu489Lys
ENST00000544807.6:c.1375G>A	ENSP00000437513.2:p.Glu459Lys
ENST00000555000.5:c.910G>A	ENSP00000450472.1:p.Glu304Lys
ENST00000555179.1:c.206+2048G>A
ENST00000557316.5:c.*941G>A	ENSP00000452314.1:n.*941G>A
XM_011536618.1:c.1375G>A	XP_011534920.1:p.Glu459Lys
XM_011536618.2:c.1375G>A	XP_011534920.1:p.Glu459Lys