Canonical Allele Identifier: CA349248879
Gene: B3GALT1 HGNC NCBI
B3GALT1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.167869130T>C , CM000664.2:g.167869130T>C GRCh38
NC_000002.11:g.168725640T>C , CM000664.1:g.168725640T>C GRCh37
NC_000002.10:g.168433886T>C NCBI36
NG_050644.1:g.581070T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000392690.4:c.91T>C (B3GALT1) MANE Select ENSP00000376456.2:p.Ser31Pro
ENST00000392690.3:c.91T>C (B3GALT1) ENSP00000376456.2:p.Ser31Pro
NM_020981.3:c.91T>C (B3GALT1) NP_066191.1:p.Ser31Pro
NR_131227.1:n.328+610A>G (B3GALT1-AS1)
XM_005246931.2:c.91T>C (B3GALT1) XP_005246988.1:p.Ser31Pro
XM_006712819.2:c.91T>C (B3GALT1) XP_006712882.1:p.Ser31Pro
XM_011512084.1:c.91T>C (B3GALT1) XP_011510386.1:p.Ser31Pro
XM_011512085.1:c.91T>C (B3GALT1) XP_011510387.1:p.Ser31Pro
XM_005246931.3:c.91T>C (B3GALT1) XP_005246988.1:p.Ser31Pro
XM_006712819.3:c.91T>C (B3GALT1) XP_006712882.1:p.Ser31Pro
XM_011512085.2:c.91T>C (B3GALT1) XP_011510387.1:p.Ser31Pro
NM_020981.4:c.91T>C (B3GALT1) MANE Select NP_066191.1:p.Ser31Pro