Canonical Allele Identifier: CA124709
Gene: HBD HGNC NCBI

Linked Data

ClinVar Variation Id: 15086
ClinVar RCV Id: RCV000016239
dbSNP Id: rs34802738
gnomAD v4: 11-5233007-A-G
MyVariant Identifiers: chr11:g.5254237A>G (hg19) chr11:g.5233007A>G (hg38)
PubMed: PMID:15921167
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5233007A>G , CM000673.2:g.5233007A>G GRCh38
NC_000011.9:g.5254237A>G , CM000673.1:g.5254237A>G GRCh37
NC_000011.8:g.5210813A>G NCBI36
NG_000007.3:g.64609T>C
NG_063112.2:g.15651T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000643122.1:c.401T>C ENSP00000494708.1:p.Val134Ala
ENST00000650601.1:c.401T>C MANE Select ENSP00000497529.1:p.Val134Ala
ENST00000292901.7:c.316-209T>C ENSP00000292901.3:n.316-209T>C
ENST00000380299.3:c.401T>C ENSP00000369654.3:p.Val134Ala
ENST00000417377.1:c.178T>C ENSP00000414741.1:p.Trp60Arg
NM_000519.3:c.401T>C NP_000510.1:p.Val134Ala
NM_000519.4:c.401T>C MANE Select NP_000510.1:p.Val134Ala
Search 100 bp 5'
Search 100 bp 3'