Canonical Allele Identifier: CA349250775
Gene: B3GALT1 HGNC NCBI
B3GALT1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.167869896A>G , CM000664.2:g.167869896A>G GRCh38
NC_000002.11:g.168726406A>G , CM000664.1:g.168726406A>G GRCh37
NC_000002.10:g.168434652A>G NCBI36
NG_050644.1:g.581836A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000392690.4:c.857A>G (B3GALT1) MANE Select ENSP00000376456.2:p.Asn286Ser
ENST00000392690.3:c.857A>G (B3GALT1) ENSP00000376456.2:p.Asn286Ser
NM_020981.3:c.857A>G (B3GALT1) NP_066191.1:p.Asn286Ser
NR_131227.1:n.172T>C (B3GALT1-AS1)
XM_005246931.2:c.857A>G (B3GALT1) XP_005246988.1:p.Asn286Ser
XM_006712819.2:c.857A>G (B3GALT1) XP_006712882.1:p.Asn286Ser
XM_011512084.1:c.857A>G (B3GALT1) XP_011510386.1:p.Asn286Ser
XM_011512085.1:c.857A>G (B3GALT1) XP_011510387.1:p.Asn286Ser
XM_005246931.3:c.857A>G (B3GALT1) XP_005246988.1:p.Asn286Ser
XM_006712819.3:c.857A>G (B3GALT1) XP_006712882.1:p.Asn286Ser
XM_011512085.2:c.857A>G (B3GALT1) XP_011510387.1:p.Asn286Ser
NM_020981.4:c.857A>G (B3GALT1) MANE Select NP_066191.1:p.Asn286Ser