Canonical Allele Identifier: CA5839916
Gene: HBD HGNC NCBI

Linked Data

dbSNP Id: rs370683880
ExAC: 11:5255174 A / T
gnomAD v2: 11-5255174-A-T
gnomAD v4: 11-5233944-A-T
MyVariant Identifiers: chr11:g.5255174A>T (hg19) chr11:g.5233944A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5233944A>T , CM000673.2:g.5233944A>T GRCh38
NC_000011.9:g.5255174A>T , CM000673.1:g.5255174A>T GRCh37
NC_000011.8:g.5211750A>T NCBI36
NG_000007.3:g.63672T>A
NG_063112.2:g.14714T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000643122.1:c.315+47T>A ENSP00000494708.1:n.315+47T>A
ENST00000650601.1:c.315+47T>A MANE Select ENSP00000497529.1:n.315+47T>A
ENST00000292901.7:c.315+47T>A ENSP00000292901.3:n.315+47T>A
ENST00000380299.3:c.315+47T>A ENSP00000369654.3:n.315+47T>A
ENST00000417377.1:c.92+398T>A ENSP00000414741.1:n.92+398T>A
NM_000519.3:c.315+47T>A NP_000510.1:n.315+47T>A
NM_000519.4:c.315+47T>A MANE Select NP_000510.1:n.315+47T>A
Search 100 bp 5'
Search 100 bp 3'