Canonical Allele Identifier: CA337823542
Gene: B3GALT6 HGNC NCBI

Linked Data

dbSNP Id: rs1436567011
gnomAD v3: 1-1232505-T-A
gnomAD v4: 1-1232505-T-A
MyVariant Identifiers: chr1:g.1167885T>A (hg19) chr1:g.1232505T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232505T>A , CM000663.2:g.1232505T>A GRCh38
NC_000001.10:g.1167885T>A , CM000663.1:g.1167885T>A GRCh37
NC_000001.9:g.1157748T>A NCBI36
NG_030007.1:g.4563A>T
NG_033265.1:g.5257T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.227T>A MANE Select ENSP00000368496.2:p.Ile76Asn
ENST00000379198.3:c.227T>A ENSP00000368496.2:p.Ile76Asn
NM_080605.3:c.227T>A NP_542172.2:p.Ile76Asn
NM_080605.4:c.227T>A MANE Select NP_542172.2:p.Ile76Asn
Search 100 bp 5'
Search 100 bp 3'