Canonical Allele Identifier: CA337824767
Gene: B3GALT6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232634T>G , CM000663.2:g.1232634T>G GRCh38
NC_000001.10:g.1168014T>G , CM000663.1:g.1168014T>G GRCh37
NC_000001.9:g.1157877T>G NCBI36
NG_030007.1:g.4434A>C
NG_033265.1:g.5386T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.356T>G MANE Select ENSP00000368496.2:p.Leu119Arg
ENST00000379198.3:c.356T>G ENSP00000368496.2:p.Leu119Arg
NM_080605.3:c.356T>G NP_542172.2:p.Leu119Arg
NM_080605.4:c.356T>G MANE Select NP_542172.2:p.Leu119Arg