Canonical Allele Identifier: CA337824651
Gene: B3GALT6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1427535
ClinVar RCV Id: RCV001964631
dbSNP Id: rs1638548585
gnomAD v4: 1-1232625-A-G
MyVariant Identifiers: chr1:g.1168005A>G (hg19) chr1:g.1232625A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232625A>G , CM000663.2:g.1232625A>G GRCh38
NC_000001.10:g.1168005A>G , CM000663.1:g.1168005A>G GRCh37
NC_000001.9:g.1157868A>G NCBI36
NG_030007.1:g.4443T>C
NG_033265.1:g.5377A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.347A>G MANE Select ENSP00000368496.2:p.His116Arg
ENST00000379198.3:c.347A>G ENSP00000368496.2:p.His116Arg
NM_080605.3:c.347A>G NP_542172.2:p.His116Arg
NM_080605.4:c.347A>G MANE Select NP_542172.2:p.His116Arg
Search 100 bp 5'
Search 100 bp 3'