Canonical Allele Identifier: CA379276413
Gene: HBD HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.5254216G>T (hg19) chr11:g.5232986G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5232986G>T , CM000673.2:g.5232986G>T GRCh38
NC_000011.9:g.5254216G>T , CM000673.1:g.5254216G>T GRCh37
NC_000011.8:g.5210792G>T NCBI36
NG_000007.3:g.64630C>A
NG_063112.2:g.15672C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000643122.1:c.422C>A ENSP00000494708.1:p.Ala141Asp
ENST00000650601.1:c.422C>A MANE Select ENSP00000497529.1:p.Ala141Asp
ENST00000292901.7:c.316-188C>A ENSP00000292901.3:n.316-188C>A
ENST00000380299.3:c.422C>A ENSP00000369654.3:p.Ala141Asp
ENST00000417377.1:c.199C>A ENSP00000414741.1:p.Pro67Thr
NM_000519.3:c.422C>A NP_000510.1:p.Ala141Asp
NM_000519.4:c.422C>A MANE Select NP_000510.1:p.Ala141Asp
Search 100 bp 5'
Search 100 bp 3'