Canonical Allele Identifier: CA2581798847
Gene: B3GALT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.167785460A>C , CM000664.2:g.167785460A>C GRCh38
NC_000002.11:g.168641970A>C , CM000664.1:g.168641970A>C GRCh37
NC_000002.10:g.168350216A>C NCBI36
NG_050644.1:g.497400A>C

Transcript Alleles

HGVS Amino-acid Change
NM_020981.4:c.-351-33212A>C MANE Select NP_066191.1:n.-351-33212A>C
ENST00000392690.4:c.-351-33212A>C MANE Select ENSP00000376456.2:n.-351-33212A>C
XM_005246931.2:c.-351-33212A>C XP_005246988.1:n.-351-33212A>C
XM_005246931.3:c.-351-33212A>C XP_005246988.1:n.-351-33212A>C
XM_006712819.2:c.-351-33212A>C XP_006712882.1:n.-351-33212A>C
XM_006712819.3:c.-351-33212A>C XP_006712882.1:n.-351-33212A>C
XM_011512084.1:c.-351-33212A>C XP_011510386.1:n.-351-33212A>C
XM_011512085.1:c.-367-33212A>C XP_011510387.1:n.-367-33212A>C
XM_011512085.2:c.-367-33212A>C XP_011510387.1:n.-367-33212A>C