Canonical Allele Identifier: CA251732
Gene: B3GLCT HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 1268
ClinVar RCV Id: RCV000001330
dbSNP Id: rs267606675

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.31317679G>A , CM000675.2:g.31317679G>A GRCh38
NC_000013.9:g.30789816G>A NCBI36
NC_000013.10:g.31891816G>A , CM000675.1:g.31891816G>A GRCh37
NG_011732.1:g.122705G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000343307.4:c.1178G>A ENSP00000343002.4:p.Gly393Glu
NM_194318.3:c.1178G>A VV NP_919299.3:p.Gly393Glu
XM_006719768.2:c.1121G>A XP_006719831.1:p.Gly374Glu
XM_011534936.1:c.1065-6072G>A XP_011533238.1:p.=
XM_011534937.1:c.1058G>A XP_011533239.1:p.Gly353Glu
XM_011534938.1:c.1031G>A XP_011533240.1:p.Gly344Glu