Canonical Allele Identifier: CA5839870
Gene: HBD HGNC NCBI

Linked Data

dbSNP Id: rs763208471
ExAC: 11:5254116 C / T
gnomAD v2: 11-5254116-C-T
gnomAD v3: 11-5232886-C-T
gnomAD v4: 11-5232886-C-T
MyVariant Identifiers: chr11:g.5254116C>T (hg19) chr11:g.5232886C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5232886C>T , CM000673.2:g.5232886C>T GRCh38
NC_000011.9:g.5254116C>T , CM000673.1:g.5254116C>T GRCh37
NC_000011.8:g.5210692C>T NCBI36
NG_000007.3:g.64730G>A
NG_063112.2:g.15772G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000643122.1:c.*78G>A ENSP00000494708.1:n.*78G>A
ENST00000650601.1:c.*78G>A MANE Select ENSP00000497529.1:n.*78G>A
ENST00000292901.7:c.316-88G>A ENSP00000292901.3:n.316-88G>A
ENST00000380299.3:c.*78G>A ENSP00000369654.3:n.*78G>A
NM_000519.3:c.*78G>A NP_000510.1:n.*78G>A
NM_000519.4:c.*78G>A MANE Select NP_000510.1:n.*78G>A
Search 100 bp 5'
Search 100 bp 3'