Canonical Allele Identifier: CA275055
Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 195020
dbSNP Id: rs771111145

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87988514G>A , CM000676.2:g.87988514G>A GRCh38
NC_000014.8:g.88454858G>A , CM000676.1:g.88454858G>A GRCh37
NC_000014.7:g.87524611G>A NCBI36
NG_011853.2:g.10050C>T
NG_011853.3:g.10050C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261304.7:c.205C>T MANE Select ENSP00000261304.2:p.Arg69Ter
ENST00000261304.6:c.205C>T ENSP00000261304.2:p.Arg69Ter
ENST00000393568.8:c.196-307C>T ENSP00000377198.4:n.196-307C>T
ENST00000393569.6:c.127C>T ENSP00000377199.2:p.Arg43Ter
ENST00000474294.6:n.195C>T
ENST00000544807.6:c.37C>T ENSP00000437513.2:p.Arg13Ter
ENST00000554372.5:c.205C>T ENSP00000451884.1:p.Arg69Ter
ENST00000554916.5:n.84C>T
ENST00000555956.1:n.10C>T
ENST00000556879.5:c.265C>T ENSP00000452208.1:n.265C>T
ENST00000557316.5:c.205C>T ENSP00000452314.1:p.Arg69Ter
ENST00000622264.4:c.195C>T
NM_000153.3:c.205C>T NP_000144.2:p.Arg69Ter
NM_001201401.1:c.196-307C>T NP_001188330.1:n.196-307C>T
NM_001201402.1:c.127C>T NP_001188331.1:p.Arg43Ter
XM_011536618.1:c.37C>T XP_011534920.1:p.Arg13Ter
XM_011536618.2:c.37C>T XP_011534920.1:p.Arg13Ter
NM_000153.4:c.205C>T MANE Select NP_000144.2:p.Arg69Ter
NM_001201401.2:c.196-307C>T NP_001188330.1:n.196-307C>T
NM_001201402.2:c.127C>T NP_001188331.1:p.Arg43Ter