Canonical Allele Identifier: CA390748135

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968456C>T , CM000676.2:g.87968456C>T	GRCh38
NC_000014.8:g.88434800C>T , CM000676.1:g.88434800C>T	GRCh37
NC_000014.7:g.87504553C>T	NCBI36
NG_011853.2:g.30108G>A
NG_011853.3:g.30108G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.787G>A MANE Select	NP_000144.2:p.Ala263Thr
ENST00000261304.7:c.787G>A MANE Select	ENSP00000261304.2:p.Ala263Thr
NM_000153.3:c.787G>A	NP_000144.2:p.Ala263Thr
NM_001201401.1:c.718G>A	NP_001188330.1:p.Ala240Thr
NM_001201401.2:c.718G>A	NP_001188330.1:p.Ala240Thr
NM_001201402.1:c.709G>A	NP_001188331.1:p.Ala237Thr
NM_001201402.2:c.709G>A	NP_001188331.1:p.Ala237Thr
ENST00000261304.6:c.787G>A	ENSP00000261304.2:p.Ala263Thr
ENST00000393568.8:c.718G>A	ENSP00000377198.4:p.Ala240Thr
ENST00000393569.6:c.709G>A	ENSP00000377199.2:p.Ala237Thr
ENST00000474294.6:n.777G>A
ENST00000477716.3:n.542G>A
ENST00000544807.6:c.619G>A	ENSP00000437513.2:p.Ala207Thr
ENST00000555000.5:c.154G>A	ENSP00000450472.1:p.Ala52Thr
ENST00000557316.5:c.*185G>A	ENSP00000452314.1:n.*185G>A
ENST00000622264.4:c.777G>A
XM_011536618.1:c.619G>A	XP_011534920.1:p.Ala207Thr
XM_011536618.2:c.619G>A	XP_011534920.1:p.Ala207Thr