Canonical Allele Identifier: CA7297285
Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 369724
dbSNP Id: rs202131052

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87976482T>A , CM000676.2:g.87976482T>A GRCh38
NC_000014.8:g.88442826T>A , CM000676.1:g.88442826T>A GRCh37
NC_000014.7:g.87512579T>A NCBI36
NG_011853.2:g.22082A>T
NG_011853.3:g.22082A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261304.7:c.628A>T MANE Select ENSP00000261304.2:p.Arg210Ter
ENST00000261304.6:c.628A>T ENSP00000261304.2:p.Arg210Ter
ENST00000393568.8:c.559A>T ENSP00000377198.4:p.Arg187Ter
ENST00000393569.6:c.550A>T ENSP00000377199.2:p.Arg184Ter
ENST00000474294.6:n.618A>T
ENST00000477716.3:n.383A>T
ENST00000544807.6:c.460A>T ENSP00000437513.2:p.Arg154Ter
ENST00000554916.5:n.507A>T
ENST00000555000.5:c.-6A>T ENSP00000450472.1:n.-6A>T
ENST00000557316.5:c.*26A>T ENSP00000452314.1:n.*26A>T
ENST00000622264.4:c.618A>T
NM_000153.3:c.628A>T NP_000144.2:p.Arg210Ter
NM_001201401.1:c.559A>T NP_001188330.1:p.Arg187Ter
NM_001201402.1:c.550A>T NP_001188331.1:p.Arg184Ter
XM_011536618.1:c.460A>T XP_011534920.1:p.Arg154Ter
XM_011536618.2:c.460A>T XP_011534920.1:p.Arg154Ter
NM_000153.4:c.628A>T MANE Select NP_000144.2:p.Arg210Ter
NM_001201401.2:c.559A>T NP_001188330.1:p.Arg187Ter
NM_001201402.2:c.550A>T NP_001188331.1:p.Arg184Ter