Canonical Allele Identifier: CA5839884
Gene: HBD HGNC NCBI

Linked Data

dbSNP Id: rs34149886
ExAC: 11:5254198 T / A
gnomAD v2: 11-5254198-T-A
gnomAD v4: 11-5232968-T-A
MyVariant Identifiers: chr11:g.5254198T>A (hg19) chr11:g.5232968T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5232968T>A , CM000673.2:g.5232968T>A GRCh38
NC_000011.9:g.5254198T>A , CM000673.1:g.5254198T>A GRCh37
NC_000011.8:g.5210774T>A NCBI36
NG_000007.3:g.64648A>T
NG_063112.2:g.15690A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000643122.1:c.440A>T ENSP00000494708.1:p.His147Leu
ENST00000650601.1:c.440A>T MANE Select ENSP00000497529.1:p.His147Leu
ENST00000292901.7:c.316-170A>T ENSP00000292901.3:n.316-170A>T
ENST00000380299.3:c.440A>T ENSP00000369654.3:p.His147Leu
ENST00000417377.1:c.217A>T ENSP00000414741.1:p.Ile73Phe
NM_000519.3:c.440A>T NP_000510.1:p.His147Leu
NM_000519.4:c.440A>T MANE Select NP_000510.1:p.His147Leu
Search 100 bp 5'
Search 100 bp 3'