Canonical Allele Identifier: CA337824608
Gene: B3GALT6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232617G>C , CM000663.2:g.1232617G>C GRCh38
NC_000001.10:g.1167997G>C , CM000663.1:g.1167997G>C GRCh37
NC_000001.9:g.1157860G>C NCBI36
NG_030007.1:g.4451C>G
NG_033265.1:g.5369G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.339G>C MANE Select ENSP00000368496.2:p.Gln113His
ENST00000379198.3:c.339G>C ENSP00000368496.2:p.Gln113His
NM_080605.3:c.339G>C NP_542172.2:p.Gln113His
NM_080605.4:c.339G>C MANE Select NP_542172.2:p.Gln113His