Canonical Allele Identifier: CA415761325
Gene: B3GALT6 HGNC NCBI

Linked Data

ClinVar Variation Id: 2101571
ClinVar RCV Id: RCV003016978
dbSNP Id: rs1557526065
gnomAD v2: 1-1167943-C-A
gnomAD v4: 1-1232563-C-A
MyVariant Identifiers: chr1:g.1167943C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232563C>A , CM000663.2:g.1232563C>A GRCh38
NC_000001.10:g.1167943C>A , CM000663.1:g.1167943C>A GRCh37
NC_000001.9:g.1157806C>A NCBI36
NG_030007.1:g.4505G>T
NG_033265.1:g.5315C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.285C>A MANE Select ENSP00000368496.2:p.Ala95=
ENST00000379198.3:c.285C>A ENSP00000368496.2:p.Ala95=
NM_080605.3:c.285C>A NP_542172.2:p.Ala95=
NM_080605.4:c.285C>A MANE Select NP_542172.2:p.Ala95=
Search 100 bp 5'
Search 100 bp 3'