Canonical Allele Identifier: CA124711
Gene: HBD HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.5234514T>C
GRCh37 chr11:g.5255744T>C
gnomAD v4:
chr11-5234514-T-C
Joint Max Group AF 0.00000124 (NFE)
Exomes Max Group AF 0.00000139 (NFE)
ClinVar RCV:
RCV000016240
ClinVar Variation:
15087
dbSNP:
35518301
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234514T>C , CM000673.2:g.5234514T>C GRCh38
NC_000011.9:g.5255744T>C , CM000673.1:g.5255744T>C GRCh37
NC_000011.8:g.5212320T>C NCBI36
NG_000007.3:g.63102A>G
NG_063112.2:g.14144A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000643122.1:c.-28-53A>G ENSP00000494708.1:n.-28-53A>G
ENST00000380299.3:c.-81A>G ENSP00000369654.3:n.-81A>G
ENST00000429817.1:c.-81A>G ENSP00000393810.1:n.-81A>G
NM_000519.3:c.-81A>G NP_000510.1:n.-81A>G
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