Canonical Allele Identifier: CA124709
Gene: HBD HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.5233007A>G
GRCh37 chr11:g.5254237A>G
Revel Score:
ENST00000380299 0.640
ENST00000417377 0.247
gnomAD v4:
chr11-5233007-A-G
Joint Max Group AF 0.00005787 (EAS)
Exomes Max Group AF 0.0000651 (EAS)
ClinVar RCV:
RCV000016239
ClinVar Variation:
15086
dbSNP:
34802738
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'