Canonical Allele Identifier: CA337824490
Gene: B3GALT6 HGNC NCBI

Linked Data

gnomAD v4: 1-1232609-C-G
MyVariant Identifiers: chr1:g.1167989C>G (hg19) chr1:g.1232609C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232609C>G , CM000663.2:g.1232609C>G GRCh38
NC_000001.10:g.1167989C>G , CM000663.1:g.1167989C>G GRCh37
NC_000001.9:g.1157852C>G NCBI36
NG_030007.1:g.4459G>C
NG_033265.1:g.5361C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.331C>G MANE Select ENSP00000368496.2:p.Arg111Gly
ENST00000379198.3:c.331C>G ENSP00000368496.2:p.Arg111Gly
NM_080605.3:c.331C>G NP_542172.2:p.Arg111Gly
NM_080605.4:c.331C>G MANE Select NP_542172.2:p.Arg111Gly
Search 100 bp 5'
Search 100 bp 3'