Canonical Allele Identifier: CA2082357979
Gene: B3GLCT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.31317687T= , CM000675.2:g.31317687T= GRCh38
NC_000013.10:g.31891824T= , CM000675.1:g.31891824T= GRCh37
NC_000013.9:g.30789824T= NCBI36
NG_011732.1:g.122713T=
NG_011732.2:g.122713T=

Transcript Alleles

HGVS Amino-acid change
ENST00000343307.5:c.1184+2T= MANE Select ENSP00000343002.4:n.1184+2T=
ENST00000343307.4:c.1184+2T= ENSP00000343002.4:n.1184+2T=
NM_194318.3:c.1184+2T= NP_919299.3:n.1184+2T=
XM_006719768.2:c.1127+2T= XP_006719831.1:n.1127+2T=
XM_011534936.1:c.1065-6064T= XP_011533238.1:n.1065-6064T=
XM_011534937.1:c.1064+2T= XP_011533239.1:n.1064+2T=
XM_011534938.1:c.1037+2T= XP_011533240.1:n.1037+2T=
XM_006719768.3:c.1127+2T= XP_006719831.1:n.1127+2T=
XM_011534938.2:c.1037+2T= XP_011533240.1:n.1037+2T=
XM_017020395.1:c.1037+2T= XP_016875884.1:n.1037+2T=
NM_194318.4:c.1184+2T= MANE Select NP_919299.3:n.1184+2T=