Canonical Allele Identifier: CA337823561
Gene: B3GALT6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232510A>C , CM000663.2:g.1232510A>C GRCh38
NC_000001.10:g.1167890A>C , CM000663.1:g.1167890A>C GRCh37
NC_000001.9:g.1157753A>C NCBI36
NG_030007.1:g.4558T>G
NG_033265.1:g.5262A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.232A>C MANE Select ENSP00000368496.2:p.Ser78Arg
ENST00000379198.3:c.232A>C ENSP00000368496.2:p.Ser78Arg
NM_080605.3:c.232A>C NP_542172.2:p.Ser78Arg
NM_080605.4:c.232A>C MANE Select NP_542172.2:p.Ser78Arg