Canonical Allele Identifier: CA483373326
Gene: B3GLCT HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.31891745C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.31317608C>A , CM000675.2:g.31317608C>A GRCh38
NC_000013.10:g.31891745C>A , CM000675.1:g.31891745C>A GRCh37
NC_000013.9:g.30789745C>A NCBI36
NG_011732.1:g.122634C>A
NG_011732.2:g.122634C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000343307.5:c.1107C>A MANE Select ENSP00000343002.4:p.Gly369=
ENST00000343307.4:c.1107C>A ENSP00000343002.4:p.Gly369=
NM_194318.3:c.1107C>A NP_919299.3:p.Gly369=
XM_006719768.2:c.1050C>A XP_006719831.1:p.Gly350=
XM_011534936.1:c.1065-6143C>A XP_011533238.1:n.1065-6143C>A
XM_011534937.1:c.987C>A XP_011533239.1:p.Gly329=
XM_011534938.1:c.960C>A XP_011533240.1:p.Gly320=
XR_941500.1:n.1292C>A
XR_941501.1:n.1172C>A
XM_006719768.3:c.1050C>A XP_006719831.1:p.Gly350=
XM_011534938.2:c.960C>A XP_011533240.1:p.Gly320=
XM_017020395.1:c.960C>A XP_016875884.1:p.Gly320=
NM_194318.4:c.1107C>A MANE Select NP_919299.3:p.Gly369=