Canonical Allele Identifier: CA2082357647
Gene: B3GLCT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.31317486T= , CM000675.2:g.31317486T= GRCh38
NC_000013.10:g.31891623T= , CM000675.1:g.31891623T= GRCh37
NC_000013.9:g.30789623T= NCBI36
NG_011732.1:g.122512T=
NG_011732.2:g.122512T=

Transcript Alleles

HGVS Amino-acid change
ENST00000343307.5:c.1065-80T= MANE Select ENSP00000343002.4:n.1065-80T=
ENST00000343307.4:c.1065-80T= ENSP00000343002.4:n.1065-80T=
NM_194318.3:c.1065-80T= NP_919299.3:n.1065-80T=
XM_006719768.2:c.1008-80T= XP_006719831.1:n.1008-80T=
XM_011534936.1:c.1065-6265T= XP_011533238.1:n.1065-6265T=
XM_011534937.1:c.945-80T= XP_011533239.1:n.945-80T=
XM_011534938.1:c.918-80T= XP_011533240.1:n.918-80T=
XR_941500.1:n.1250-80T=
XR_941501.1:n.1130-80T=
XM_006719768.3:c.1008-80T= XP_006719831.1:n.1008-80T=
XM_011534938.2:c.918-80T= XP_011533240.1:n.918-80T=
XM_017020395.1:c.918-80T= XP_016875884.1:n.918-80T=
NM_194318.4:c.1065-80T= MANE Select NP_919299.3:n.1065-80T=