Canonical Allele Identifier: CA415761233
Gene: B3GALT6 HGNC NCBI

Linked Data

dbSNP Id: rs1372150716
gnomAD v3: 1-1232533-G-A
gnomAD v4: 1-1232533-G-A
MyVariant Identifiers: chr1:g.1167913G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232533G>A , CM000663.2:g.1232533G>A GRCh38
NC_000001.10:g.1167913G>A , CM000663.1:g.1167913G>A GRCh37
NC_000001.9:g.1157776G>A NCBI36
NG_030007.1:g.4535C>T
NG_033265.1:g.5285G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.255G>A MANE Select ENSP00000368496.2:p.Gly85=
ENST00000379198.3:c.255G>A ENSP00000368496.2:p.Gly85=
NM_080605.3:c.255G>A NP_542172.2:p.Gly85=
NM_080605.4:c.255G>A MANE Select NP_542172.2:p.Gly85=
Search 100 bp 5'
Search 100 bp 3'