Canonical Allele Identifier: CA7297021

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947817G>T , CM000676.2:g.87947817G>T	GRCh38
NC_000014.8:g.88414161G>T , CM000676.1:g.88414161G>T	GRCh37
NC_000014.7:g.87483914G>T	NCBI36
NG_011853.2:g.50747C>A
NG_011853.3:g.50747C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1400C>A MANE Select	NP_000144.2:p.Thr467Asn
ENST00000261304.7:c.1400C>A MANE Select	ENSP00000261304.2:p.Thr467Asn
NM_000153.3:c.1400C>A	NP_000144.2:p.Thr467Asn
NM_001201401.1:c.1331C>A	NP_001188330.1:p.Thr444Asn
NM_001201401.2:c.1331C>A	NP_001188330.1:p.Thr444Asn
NM_001201402.1:c.1322C>A	NP_001188331.1:p.Thr441Asn
NM_001201402.2:c.1322C>A	NP_001188331.1:p.Thr441Asn
ENST00000261304.6:c.1400C>A	ENSP00000261304.2:p.Thr467Asn
ENST00000393568.8:c.1331C>A	ENSP00000377198.4:p.Thr444Asn
ENST00000393569.6:c.1322C>A	ENSP00000377199.2:p.Thr441Asn
ENST00000544807.6:c.1232C>A	ENSP00000437513.2:p.Thr411Asn
ENST00000555000.5:c.767C>A	ENSP00000450472.1:p.Thr256Asn
ENST00000555179.1:c.117C>A
ENST00000557316.5:c.*798C>A	ENSP00000452314.1:n.*798C>A
XM_011536618.1:c.1232C>A	XP_011534920.1:p.Thr411Asn
XM_011536618.2:c.1232C>A	XP_011534920.1:p.Thr411Asn