Canonical Allele Identifier: CA144534
Gene: B3GALT6 HGNC NCBI

Linked Data

ClinVar Variation Id: 60495
ClinVar RCV Id: RCV000054401 RCV003225928
dbSNP Id: rs397514723
gnomAD v4: 1-1232897-G-C
MyVariant Identifiers: chr1:g.1168277G>C (hg19) chr1:g.1232897G>C (hg38)
PubMed: PMID:23664118
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232897G>C , CM000663.2:g.1232897G>C GRCh38
NC_000001.10:g.1168277G>C , CM000663.1:g.1168277G>C GRCh37
NC_000001.9:g.1158140G>C NCBI36
NG_030007.1:g.4171C>G
NG_033265.1:g.5649G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.619G>C MANE Select ENSP00000368496.2:p.Asp207His
ENST00000379198.3:c.619G>C ENSP00000368496.2:p.Asp207His
NM_080605.3:c.619G>C NP_542172.2:p.Asp207His
NM_080605.4:c.619G>C MANE Select NP_542172.2:p.Asp207His
Search 100 bp 5'
Search 100 bp 3'