Canonical Allele Identifier: CA7297353

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984515G>T , CM000676.2:g.87984515G>T	GRCh38
NC_000014.8:g.88450859G>T , CM000676.1:g.88450859G>T	GRCh37
NC_000014.7:g.87520612G>T	NCBI36
NG_011853.2:g.14049C>A
NG_011853.3:g.14049C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.461C>A MANE Select	NP_000144.2:p.Pro154His
ENST00000261304.7:c.461C>A MANE Select	ENSP00000261304.2:p.Pro154His
NM_000153.3:c.461C>A	NP_000144.2:p.Pro154His
NM_001201401.1:c.392C>A	NP_001188330.1:p.Pro131His
NM_001201401.2:c.392C>A	NP_001188330.1:p.Pro131His
NM_001201402.1:c.383C>A	NP_001188331.1:p.Pro128His
NM_001201402.2:c.383C>A	NP_001188331.1:p.Pro128His
ENST00000261304.6:c.461C>A	ENSP00000261304.2:p.Pro154His
ENST00000393568.8:c.392C>A	ENSP00000377198.4:p.Pro131His
ENST00000393569.6:c.383C>A	ENSP00000377199.2:p.Pro128His
ENST00000474294.6:n.451C>A
ENST00000544807.6:c.293C>A	ENSP00000437513.2:p.Pro98His
ENST00000554372.5:c.*210C>A	ENSP00000451884.1:n.*210C>A
ENST00000554916.5:n.340C>A
ENST00000556261.5:n.162C>A
ENST00000556879.5:c.521C>A	ENSP00000452208.1:n.521C>A
ENST00000557316.5:c.461C>A	ENSP00000452314.1:p.Pro154His
ENST00000622264.4:c.451C>A
XM_011536618.1:c.293C>A	XP_011534920.1:p.Pro98His
XM_011536618.2:c.293C>A	XP_011534920.1:p.Pro98His