Canonical Allele Identifier: CA124707
Gene: HBD HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.5233985A>T
GRCh37 chr11:g.5255215A>T
gnomAD v2:
11:5255215 A / T
gnomAD v3:
11:5233985 A / T
gnomAD v4:
chr11-5233985-A-T
Joint Max Group AF 0.00000954 (NFE)
Exomes Max Group AF 0.00000932 (NFE)
ClinVar RCV:
RCV000016237
ClinVar Variation:
15084
dbSNP:
63750345
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5233985A>T , CM000673.2:g.5233985A>T GRCh38
NC_000011.9:g.5255215A>T , CM000673.1:g.5255215A>T GRCh37
NC_000011.8:g.5211791A>T NCBI36
NG_000007.3:g.63631T>A
NG_063112.2:g.14673T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000643122.1:c.315+6T>A ENSP00000494708.1:n.315+6T>A
ENST00000650601.1:c.315+6T>A MANE Select ENSP00000497529.1:n.315+6T>A
ENST00000292901.7:c.315+6T>A ENSP00000292901.3:n.315+6T>A
ENST00000380299.3:c.315+6T>A ENSP00000369654.3:n.315+6T>A
ENST00000417377.1:c.92+357T>A ENSP00000414741.1:n.92+357T>A
NM_000519.3:c.315+6T>A NP_000510.1:n.315+6T>A
NM_000519.4:c.315+6T>A MANE Select NP_000510.1:n.315+6T>A
Search 100 bp 5'
Search 100 bp 3'