Canonical Allele Identifier: CA124639
Gene: HBD HGNC NCBI

Linked Data

ClinVar Variation Id: 15045
ClinVar RCV Id: RCV000016190
dbSNP Id: rs35329985
COSMIC: COSM3448560
MyVariant Identifiers: chr11:g.5255238C>T (hg19) chr11:g.5234008C>T (hg38)
PubMed: PMID:7129931
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234008C>T , CM000673.2:g.5234008C>T GRCh38
NC_000011.9:g.5255238C>T , CM000673.1:g.5255238C>T GRCh37
NC_000011.8:g.5211814C>T NCBI36
NG_000007.3:g.63608G>A
NG_063112.2:g.14650G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000643122.1:c.298G>A ENSP00000494708.1:p.Asp100Asn
ENST00000650601.1:c.298G>A MANE Select ENSP00000497529.1:p.Asp100Asn
ENST00000292901.7:c.298G>A ENSP00000292901.3:p.Asp100Asn
ENST00000380299.3:c.298G>A ENSP00000369654.3:p.Asp100Asn
ENST00000417377.1:c.92+334G>A ENSP00000414741.1:n.92+334G>A
ENST00000429817.1:c.298G>A ENSP00000393810.1:p.Asp100Asn
NM_000519.3:c.298G>A NP_000510.1:p.Asp100Asn
NM_000519.4:c.298G>A MANE Select NP_000510.1:p.Asp100Asn
Search 100 bp 5'
Search 100 bp 3'