Canonical Allele Identifier: CA415760929
Gene: B3GALT6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.1167826C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232446C>G , CM000663.2:g.1232446C>G GRCh38
NC_000001.10:g.1167826C>G , CM000663.1:g.1167826C>G GRCh37
NC_000001.9:g.1157689C>G NCBI36
NG_030007.1:g.4622G>C
NG_033265.1:g.5198C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.168C>G MANE Select ENSP00000368496.2:p.Ala56=
ENST00000379198.3:c.168C>G ENSP00000368496.2:p.Ala56=
NM_080605.3:c.168C>G NP_542172.2:p.Ala56=
NM_080605.4:c.168C>G MANE Select NP_542172.2:p.Ala56=