Canonical Allele Identifier: CA1148810046
Gene: B3GALT6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232609C= , CM000663.2:g.1232609C= GRCh38
NC_000001.10:g.1167989C= , CM000663.1:g.1167989C= GRCh37
NC_000001.9:g.1157852C= NCBI36
NG_030007.1:g.4459G=
NG_033265.1:g.5361C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.331C= MANE Select ENSP00000368496.2:p.Arg111=
ENST00000379198.3:c.331C= ENSP00000368496.2:p.Arg111=
NM_080605.3:c.331C= NP_542172.2:p.Arg111=
NM_080605.4:c.331C= MANE Select NP_542172.2:p.Arg111=