Canonical Allele Identifier: CA7297340

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984446G>T , CM000676.2:g.87984446G>T	GRCh38
NC_000014.8:g.88450790G>T , CM000676.1:g.88450790G>T	GRCh37
NC_000014.7:g.87520543G>T	NCBI36
NG_011853.2:g.14118C>A
NG_011853.3:g.14118C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.530C>A MANE Select	NP_000144.2:p.Thr177Asn
ENST00000261304.7:c.530C>A MANE Select	ENSP00000261304.2:p.Thr177Asn
NM_000153.3:c.530C>A	NP_000144.2:p.Thr177Asn
NM_001201401.1:c.461C>A	NP_001188330.1:p.Thr154Asn
NM_001201401.2:c.461C>A	NP_001188330.1:p.Thr154Asn
NM_001201402.1:c.452C>A	NP_001188331.1:p.Thr151Asn
NM_001201402.2:c.452C>A	NP_001188331.1:p.Thr151Asn
ENST00000261304.6:c.530C>A	ENSP00000261304.2:p.Thr177Asn
ENST00000393568.8:c.461C>A	ENSP00000377198.4:p.Thr154Asn
ENST00000393569.6:c.452C>A	ENSP00000377199.2:p.Thr151Asn
ENST00000474294.6:n.520C>A
ENST00000544807.6:c.362C>A	ENSP00000437513.2:p.Thr121Asn
ENST00000554372.5:c.*279C>A	ENSP00000451884.1:n.*279C>A
ENST00000554916.5:n.409C>A
ENST00000556261.5:n.231C>A
ENST00000556879.5:c.590C>A	ENSP00000452208.1:n.590C>A
ENST00000557316.5:c.530C>A	ENSP00000452314.1:p.Thr177Asn
ENST00000622264.4:c.520C>A
XM_011536618.1:c.362C>A	XP_011534920.1:p.Thr121Asn
XM_011536618.2:c.362C>A	XP_011534920.1:p.Thr121Asn