Canonical Allele Identifier: CA1148809297
Gene: B3GALT6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232487C= , CM000663.2:g.1232487C= GRCh38
NC_000001.10:g.1167867C= , CM000663.1:g.1167867C= GRCh37
NC_000001.9:g.1157730C= NCBI36
NG_030007.1:g.4581G=
NG_033265.1:g.5239C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.209C= MANE Select ENSP00000368496.2:p.Ala70=
ENST00000379198.3:c.209C= ENSP00000368496.2:p.Ala70=
NM_080605.3:c.209C= NP_542172.2:p.Ala70=
NM_080605.4:c.209C= MANE Select NP_542172.2:p.Ala70=