Canonical Allele Identifier: CA1148810373
Gene: B3GALT6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232653G= , CM000663.2:g.1232653G= GRCh38
NC_000001.10:g.1168033G= , CM000663.1:g.1168033G= GRCh37
NC_000001.9:g.1157896G= NCBI36
NG_030007.1:g.4415C=
NG_033265.1:g.5405G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.375G= MANE Select ENSP00000368496.2:p.Leu125=
ENST00000379198.3:c.375G= ENSP00000368496.2:p.Leu125=
NM_080605.3:c.375G= NP_542172.2:p.Leu125=
NM_080605.4:c.375G= MANE Select NP_542172.2:p.Leu125=