Canonical Allele Identifier: CA144526
Gene: B3GALT6 HGNC NCBI

Linked Data

ClinVar Variation Id: 60488
ClinVar RCV Id: RCV000054394
dbSNP Id: rs397514719
gnomAD v4: 1-1232471-A-G
MyVariant Identifiers: chr1:g.1167851A>G (hg19) chr1:g.1232471A>G (hg38)
PubMed: PMID:23664117
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232471A>G , CM000663.2:g.1232471A>G GRCh38
NC_000001.10:g.1167851A>G , CM000663.1:g.1167851A>G GRCh37
NC_000001.9:g.1157714A>G NCBI36
NG_030007.1:g.4597T>C
NG_033265.1:g.5223A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000379198.5:c.193A>G MANE Select ENSP00000368496.2:p.Ser65Gly
ENST00000379198.3:c.193A>G ENSP00000368496.2:p.Ser65Gly
NM_080605.3:c.193A>G NP_542172.2:p.Ser65Gly
NM_080605.4:c.193A>G MANE Select NP_542172.2:p.Ser65Gly
Search 100 bp 5'
Search 100 bp 3'