Canonical Allele Identifier: CA2082357823
Gene: B3GLCT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.31317609G= , CM000675.2:g.31317609G= GRCh38
NC_000013.10:g.31891746G= , CM000675.1:g.31891746G= GRCh37
NC_000013.9:g.30789746G= NCBI36
NG_011732.1:g.122635G=
NG_011732.2:g.122635G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000343307.5:c.1108G= MANE Select ENSP00000343002.4:p.Glu370=
ENST00000343307.4:c.1108G= ENSP00000343002.4:p.Glu370=
NM_194318.3:c.1108G= NP_919299.3:p.Glu370=
XM_006719768.2:c.1051G= XP_006719831.1:p.Glu351=
XM_011534936.1:c.1065-6142G= XP_011533238.1:n.1065-6142G=
XM_011534937.1:c.988G= XP_011533239.1:p.Glu330=
XM_011534938.1:c.961G= XP_011533240.1:p.Glu321=
XR_941500.1:n.1293G=
XR_941501.1:n.1173G=
XM_006719768.3:c.1051G= XP_006719831.1:p.Glu351=
XM_011534938.2:c.961G= XP_011533240.1:p.Glu321=
XM_017020395.1:c.961G= XP_016875884.1:p.Glu321=
NM_194318.4:c.1108G= MANE Select NP_919299.3:p.Glu370=