Canonical Allele Identifier: CA513367
Gene: B3GALT6 HGNC NCBI

Linked Data

ClinVar Variation Id: 373234
ClinVar RCV Id: RCV001579634 RCV002523943
dbSNP Id: rs200646244
ExAC: 1:1168173 C / T
gnomAD v2: 1-1168173-C-T
gnomAD v3: 1-1232793-C-T
gnomAD v4: 1-1232793-C-T
MyVariant Identifiers: chr1:g.1168173C>T (hg19) chr1:g.1232793C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232793C>T , CM000663.2:g.1232793C>T GRCh38
NC_000001.10:g.1168173C>T , CM000663.1:g.1168173C>T GRCh37
NC_000001.9:g.1158036C>T NCBI36
NG_030007.1:g.4275G>A
NG_033265.1:g.5545C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000379198.5:c.515C>T MANE Select ENSP00000368496.2:p.Ala172Val
ENST00000379198.3:c.515C>T ENSP00000368496.2:p.Ala172Val
NM_080605.3:c.515C>T NP_542172.2:p.Ala172Val
NM_080605.4:c.515C>T MANE Select NP_542172.2:p.Ala172Val
Search 100 bp 5'
Search 100 bp 3'