Canonical Allele Identifier: CA144528
Gene: B3GALT6 HGNC NCBI

Linked Data

ClinVar Variation Id: 60490
ClinVar RCV Id: RCV000054396 RCV002513707
dbSNP Id: rs750088530
ExAC: 1:1168010 GA / G
gnomAD v2: 1-1168010-GA-G
gnomAD v3: 1-1232630-GA-G
gnomAD v4: 1-1232630-GA-G
MyVariant Identifiers: chr1:g.1168011del (hg19) chr1:g.1232631del (hg38)
PubMed: PMID:23664117
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232631del , CM000663.2:g.1232631del GRCh38
NC_000001.10:g.1168011del , CM000663.1:g.1168011del GRCh37
NC_000001.9:g.1157874del NCBI36
NG_030007.1:g.4437del
NG_033265.1:g.5383del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.353del MANE Select ENSP00000368496.2:p.Asp118AlafsTer?
ENST00000379198.3:c.353del ENSP00000368496.2:p.Asp118AlafsTer?
NM_080605.3:c.353del NP_542172.2:p.Asp118AlafsTer?
NM_080605.4:c.353del MANE Select NP_542172.2:p.Asp118AlafsTer?
Search 100 bp 5'
Search 100 bp 3'