Canonical Allele Identifier: CA483257197
Gene: B3GLCT HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.31843390C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.31269253C>T , CM000675.2:g.31269253C>T GRCh38
NC_000013.10:g.31843390C>T , CM000675.1:g.31843390C>T GRCh37
NC_000013.9:g.30741390C>T NCBI36
NG_011732.1:g.74279C>T
NG_011732.2:g.74279C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000343307.5:c.636C>T MANE Select ENSP00000343002.4:p.Asp212=
ENST00000343307.4:c.636C>T ENSP00000343002.4:p.Asp212=
ENST00000461652.2:n.251C>T
NM_194318.3:c.636C>T NP_919299.3:p.Asp212=
XM_006719768.2:c.579C>T XP_006719831.1:p.Asp193=
XM_011534936.1:c.636C>T XP_011533238.1:p.Asp212=
XM_011534937.1:c.636C>T XP_011533239.1:p.Asp212=
XM_011534938.1:c.489C>T XP_011533240.1:p.Asp163=
XR_941500.1:n.735C>T
XR_941501.1:n.735C>T
XM_006719768.3:c.579C>T XP_006719831.1:p.Asp193=
XM_011534938.2:c.489C>T XP_011533240.1:p.Asp163=
XM_017020395.1:c.489C>T XP_016875884.1:p.Asp163=
NM_194318.4:c.636C>T MANE Select NP_919299.3:p.Asp212=