Canonical Allele Identifier: CA124659
Gene: HBD HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.5234426T>C
GRCh37 chr11:g.5255656T>C
Revel Score:
ENST00000292901 0.524
ENST00000380299 0.524
ENST00000417377 0.524
ENST00000429817 0.524
gnomAD v2:
11:5255656 T / C
gnomAD v4:
chr11-5234426-T-C
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000016202
ClinVar Variation:
15055
dbSNP:
35433207
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234426T>C , CM000673.2:g.5234426T>C GRCh38
NC_000011.9:g.5255656T>C , CM000673.1:g.5255656T>C GRCh37
NC_000011.8:g.5212232T>C NCBI36
NG_000007.3:g.63190A>G
NG_063112.2:g.14232A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000643122.1:c.8A>G ENSP00000494708.1:p.His3Arg
ENST00000650601.1:c.8A>G MANE Select ENSP00000497529.1:p.His3Arg
ENST00000292901.7:c.8A>G ENSP00000292901.3:p.His3Arg
ENST00000380299.3:c.8A>G ENSP00000369654.3:p.His3Arg
ENST00000417377.1:c.8A>G ENSP00000414741.1:p.His3Arg
ENST00000429817.1:c.8A>G ENSP00000393810.1:p.His3Arg
NM_000519.3:c.8A>G NP_000510.1:p.His3Arg
NM_000519.4:c.8A>G MANE Select NP_000510.1:p.His3Arg
Search 100 bp 5'
Search 100 bp 3'