Canonical Allele Identifier: CA483373389
Gene: B3GLCT HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.31891820A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.31317683A>T , CM000675.2:g.31317683A>T GRCh38
NC_000013.10:g.31891820A>T , CM000675.1:g.31891820A>T GRCh37
NC_000013.9:g.30789820A>T NCBI36
NG_011732.1:g.122709A>T
NG_011732.2:g.122709A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000343307.5:c.1182A>T MANE Select ENSP00000343002.4:p.Gly394=
ENST00000343307.4:c.1182A>T ENSP00000343002.4:p.Gly394=
NM_194318.3:c.1182A>T NP_919299.3:p.Gly394=
XM_006719768.2:c.1125A>T XP_006719831.1:p.Gly375=
XM_011534936.1:c.1065-6068A>T XP_011533238.1:n.1065-6068A>T
XM_011534937.1:c.1062A>T XP_011533239.1:p.Gly354=
XM_011534938.1:c.1035A>T XP_011533240.1:p.Gly345=
XM_006719768.3:c.1125A>T XP_006719831.1:p.Gly375=
XM_011534938.2:c.1035A>T XP_011533240.1:p.Gly345=
XM_017020395.1:c.1035A>T XP_016875884.1:p.Gly345=
NM_194318.4:c.1182A>T MANE Select NP_919299.3:p.Gly394=