Canonical Allele Identifier: CA5839873
Gene: HBD HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.5232905G>C
GRCh37 chr11:g.5254135G>C
gnomAD v2:
11:5254135 G / C
gnomAD v3:
11:5232905 G / C
gnomAD v4:
chr11-5232905-G-C
Joint Max Group AF 0.00017686 (AFR)
Genomes Max Group AF 0.00013047 (AFR)
Exomes Max Group AF 0.00016142 (AFR)
ClinVar RCV:
RCV000323032
ClinVar Variation:
305003
dbSNP:
755421119
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5232905G>C , CM000673.2:g.5232905G>C GRCh38
NC_000011.9:g.5254135G>C , CM000673.1:g.5254135G>C GRCh37
NC_000011.8:g.5210711G>C NCBI36
NG_000007.3:g.64711C>G
NG_063112.2:g.15753C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000643122.1:c.*59C>G ENSP00000494708.1:n.*59C>G
ENST00000650601.1:c.*59C>G MANE Select ENSP00000497529.1:n.*59C>G
ENST00000292901.7:c.316-107C>G ENSP00000292901.3:n.316-107C>G
ENST00000380299.3:c.*59C>G ENSP00000369654.3:n.*59C>G
NM_000519.3:c.*59C>G NP_000510.1:n.*59C>G
NM_000519.4:c.*59C>G MANE Select NP_000510.1:n.*59C>G
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