Canonical Allele Identifier: CA337824385
Gene: B3GALT6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232600G>C , CM000663.2:g.1232600G>C GRCh38
NC_000001.10:g.1167980G>C , CM000663.1:g.1167980G>C GRCh37
NC_000001.9:g.1157843G>C NCBI36
NG_030007.1:g.4468C>G
NG_033265.1:g.5352G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.322G>C MANE Select ENSP00000368496.2:p.Ala108Pro
ENST00000379198.3:c.322G>C ENSP00000368496.2:p.Ala108Pro
NM_080605.3:c.322G>C NP_542172.2:p.Ala108Pro
NM_080605.4:c.322G>C MANE Select NP_542172.2:p.Ala108Pro