Canonical Allele Identifier: CA16041702

Gene: GALC

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984443C>T , CM000676.2:g.87984443C>T	GRCh38
NC_000014.8:g.88450787C>T , CM000676.1:g.88450787C>T	GRCh37
NC_000014.7:g.87520540C>T	NCBI36
NG_011853.2:g.14121G>A
NG_011853.3:g.14121G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.533G>A MANE Select	ENSP00000261304.2:p.Trp178Ter
ENST00000261304.6:c.533G>A	ENSP00000261304.2:p.Trp178Ter
ENST00000393568.8:c.464G>A	ENSP00000377198.4:p.Trp155Ter
ENST00000393569.6:c.455G>A	ENSP00000377199.2:p.Trp152Ter
ENST00000474294.6:n.523G>A
ENST00000544807.6:c.365G>A	ENSP00000437513.2:p.Trp122Ter
ENST00000554372.5:c.*282G>A	ENSP00000451884.1:n.*282G>A
ENST00000554916.5:n.412G>A
ENST00000556261.5:n.234G>A
ENST00000556879.5:c.593G>A	ENSP00000452208.1:n.593G>A
ENST00000557316.5:c.533G>A	ENSP00000452314.1:p.Trp178Ter
ENST00000622264.4:c.523G>A
NM_000153.3:c.533G>A	NP_000144.2:p.Trp178Ter
NM_001201401.1:c.464G>A	NP_001188330.1:p.Trp155Ter
NM_001201402.1:c.455G>A	NP_001188331.1:p.Trp152Ter
XM_011536618.1:c.365G>A	XP_011534920.1:p.Trp122Ter
XM_011536618.2:c.365G>A	XP_011534920.1:p.Trp122Ter
NM_000153.4:c.533G>A MANE Select	NP_000144.2:p.Trp178Ter
NM_001201401.2:c.464G>A	NP_001188330.1:p.Trp155Ter
NM_001201402.2:c.455G>A	NP_001188331.1:p.Trp152Ter