Canonical Allele Identifier: CA415761521
Gene: B3GALT6 HGNC NCBI

Linked Data

gnomAD v4: 1-1232611-G-C
MyVariant Identifiers: chr1:g.1167991G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232611G>C , CM000663.2:g.1232611G>C GRCh38
NC_000001.10:g.1167991G>C , CM000663.1:g.1167991G>C GRCh37
NC_000001.9:g.1157854G>C NCBI36
NG_030007.1:g.4457C>G
NG_033265.1:g.5363G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.333G>C MANE Select ENSP00000368496.2:p.Arg111=
ENST00000379198.3:c.333G>C ENSP00000368496.2:p.Arg111=
NM_080605.3:c.333G>C NP_542172.2:p.Arg111=
NM_080605.4:c.333G>C MANE Select NP_542172.2:p.Arg111=