Canonical Allele Identifier: CA124641
Gene: HBD HGNC NCBI

Linked Data

ClinVar Variation Id: 15046
ClinVar RCV Id: RCV000016191
dbSNP Id: rs34536353
ExAC: 11:5254288 C / T
gnomAD v2: 11-5254288-C-T
gnomAD v3: 11-5233058-C-T
gnomAD v4: 11-5233058-C-T
COSMIC: COSM689099
MyVariant Identifiers: chr11:g.5254288C>T (hg19) chr11:g.5233058C>T (hg38)
PubMed: PMID:1148221
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5233058C>T , CM000673.2:g.5233058C>T GRCh38
NC_000011.9:g.5254288C>T , CM000673.1:g.5254288C>T GRCh37
NC_000011.8:g.5210864C>T NCBI36
NG_000007.3:g.64558G>A
NG_063112.2:g.15600G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000643122.1:c.350G>A ENSP00000494708.1:p.Arg117His
ENST00000650601.1:c.350G>A MANE Select ENSP00000497529.1:p.Arg117His
ENST00000292901.7:c.316-260G>A ENSP00000292901.3:n.316-260G>A
ENST00000380299.3:c.350G>A ENSP00000369654.3:p.Arg117His
ENST00000417377.1:c.127G>A ENSP00000414741.1:p.Ala43Thr
NM_000519.3:c.350G>A NP_000510.1:p.Arg117His
NM_000519.4:c.350G>A MANE Select NP_000510.1:p.Arg117His
Search 100 bp 5'
Search 100 bp 3'