Canonical Allele Identifier: CA390746026

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945589G>T , CM000676.2:g.87945589G>T	GRCh38
NC_000014.8:g.88411933G>T , CM000676.1:g.88411933G>T	GRCh37
NC_000014.7:g.87481686G>T	NCBI36
NG_011853.2:g.52975C>A
NG_011853.3:g.52975C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1634C>A MANE Select	NP_000144.2:p.Ala545Glu
ENST00000261304.7:c.1634C>A MANE Select	ENSP00000261304.2:p.Ala545Glu
NM_000153.3:c.1634C>A	NP_000144.2:p.Ala545Glu
NM_001201401.1:c.1565C>A	NP_001188330.1:p.Ala522Glu
NM_001201401.2:c.1565C>A	NP_001188330.1:p.Ala522Glu
NM_001201402.1:c.1556C>A	NP_001188331.1:p.Ala519Glu
NM_001201402.2:c.1556C>A	NP_001188331.1:p.Ala519Glu
ENST00000261304.6:c.1634C>A	ENSP00000261304.2:p.Ala545Glu
ENST00000393568.8:c.1565C>A	ENSP00000377198.4:p.Ala522Glu
ENST00000393569.6:c.1556C>A	ENSP00000377199.2:p.Ala519Glu
ENST00000544807.6:c.1466C>A	ENSP00000437513.2:p.Ala489Glu
ENST00000555000.5:c.1001C>A	ENSP00000450472.1:p.Ala334Glu
ENST00000555179.1:c.206+2139C>A
ENST00000557316.5:c.*1032C>A	ENSP00000452314.1:n.*1032C>A
XM_011536618.1:c.1466C>A	XP_011534920.1:p.Ala489Glu
XM_011536618.2:c.1466C>A	XP_011534920.1:p.Ala489Glu