Canonical Allele Identifier: CA349248947
Gene: B3GALT1 HGNC NCBI
B3GALT1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.167869160C>A , CM000664.2:g.167869160C>A GRCh38
NC_000002.11:g.168725670C>A , CM000664.1:g.168725670C>A GRCh37
NC_000002.10:g.168433916C>A NCBI36
NG_050644.1:g.581100C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392690.4:c.121C>A (B3GALT1) MANE Select ENSP00000376456.2:p.Leu41Ile
ENST00000392690.3:c.121C>A (B3GALT1) ENSP00000376456.2:p.Leu41Ile
NM_020981.3:c.121C>A (B3GALT1) NP_066191.1:p.Leu41Ile
NR_131227.1:n.328+580G>T (B3GALT1-AS1)
XM_005246931.2:c.121C>A (B3GALT1) XP_005246988.1:p.Leu41Ile
XM_006712819.2:c.121C>A (B3GALT1) XP_006712882.1:p.Leu41Ile
XM_011512084.1:c.121C>A (B3GALT1) XP_011510386.1:p.Leu41Ile
XM_011512085.1:c.121C>A (B3GALT1) XP_011510387.1:p.Leu41Ile
XM_005246931.3:c.121C>A (B3GALT1) XP_005246988.1:p.Leu41Ile
XM_006712819.3:c.121C>A (B3GALT1) XP_006712882.1:p.Leu41Ile
XM_011512085.2:c.121C>A (B3GALT1) XP_011510387.1:p.Leu41Ile
NM_020981.4:c.121C>A (B3GALT1) MANE Select NP_066191.1:p.Leu41Ile