Canonical Allele Identifier: CA264703972

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968380C>T , CM000676.2:g.87968380C>T	GRCh38
NC_000014.8:g.88434724C>T , CM000676.1:g.88434724C>T	GRCh37
NC_000014.7:g.87504477C>T	NCBI36
NG_011853.2:g.30184G>A
NG_011853.3:g.30184G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.863G>A MANE Select	NP_000144.2:p.Trp288Ter
ENST00000261304.7:c.863G>A MANE Select	ENSP00000261304.2:p.Trp288Ter
NM_000153.3:c.863G>A	NP_000144.2:p.Trp288Ter
NM_001201401.1:c.794G>A	NP_001188330.1:p.Trp265Ter
NM_001201401.2:c.794G>A	NP_001188330.1:p.Trp265Ter
NM_001201402.1:c.785G>A	NP_001188331.1:p.Trp262Ter
NM_001201402.2:c.785G>A	NP_001188331.1:p.Trp262Ter
ENST00000261304.6:c.863G>A	ENSP00000261304.2:p.Trp288Ter
ENST00000393568.8:c.794G>A	ENSP00000377198.4:p.Trp265Ter
ENST00000393569.6:c.785G>A	ENSP00000377199.2:p.Trp262Ter
ENST00000474294.6:n.853G>A
ENST00000544807.6:c.695G>A	ENSP00000437513.2:p.Trp232Ter
ENST00000555000.5:c.230G>A	ENSP00000450472.1:p.Trp77Ter
ENST00000557316.5:c.*261G>A	ENSP00000452314.1:n.*261G>A
ENST00000622264.4:c.853G>A
XM_011536618.1:c.695G>A	XP_011534920.1:p.Trp232Ter
XM_011536618.2:c.695G>A	XP_011534920.1:p.Trp232Ter