Canonical Allele Identifier: CA390752855

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87986603C>T , CM000676.2:g.87986603C>T	GRCh38
NC_000014.8:g.88452947C>T , CM000676.1:g.88452947C>T	GRCh37
NC_000014.7:g.87522700C>T	NCBI36
NG_011853.2:g.11961G>A
NG_011853.3:g.11961G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.329-1G>A MANE Select	NP_000144.2:n.329-1G>A
ENST00000261304.7:c.329-1G>A MANE Select	ENSP00000261304.2:n.329-1G>A
NM_000153.3:c.329-1G>A	NP_000144.2:n.329-1G>A
NM_001201401.1:c.260-1G>A	NP_001188330.1:n.260-1G>A
NM_001201401.2:c.260-1G>A	NP_001188330.1:n.260-1G>A
NM_001201402.1:c.251-1G>A	NP_001188331.1:n.251-1G>A
NM_001201402.2:c.251-1G>A	NP_001188331.1:n.251-1G>A
ENST00000261304.6:c.329-1G>A	ENSP00000261304.2:n.329-1G>A
ENST00000393568.8:c.260-1G>A	ENSP00000377198.4:n.260-1G>A
ENST00000393569.6:c.251-1G>A	ENSP00000377199.2:n.251-1G>A
ENST00000474294.6:n.319-1G>A
ENST00000544807.6:c.161-1G>A	ENSP00000437513.2:n.161-1G>A
ENST00000554372.5:c.*78-1G>A	ENSP00000451884.1:n.*78-1G>A
ENST00000554916.5:n.208-1G>A
ENST00000556261.5:n.30-1G>A
ENST00000556879.5:c.389-1G>A	ENSP00000452208.1:n.389-1G>A
ENST00000557316.5:c.329-1G>A	ENSP00000452314.1:n.329-1G>A
ENST00000622264.4:c.319-1G>A
XM_011536618.1:c.161-1G>A	XP_011534920.1:n.161-1G>A
XM_011536618.2:c.161-1G>A	XP_011534920.1:n.161-1G>A