Canonical Allele Identifier: CA379276576
Gene: HBD HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.5254276T>C (hg19) chr11:g.5233046T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5233046T>C , CM000673.2:g.5233046T>C GRCh38
NC_000011.9:g.5254276T>C , CM000673.1:g.5254276T>C GRCh37
NC_000011.8:g.5210852T>C NCBI36
NG_000007.3:g.64570A>G
NG_063112.2:g.15612A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000643122.1:c.362A>G ENSP00000494708.1:p.Lys121Arg
ENST00000650601.1:c.362A>G MANE Select ENSP00000497529.1:p.Lys121Arg
ENST00000292901.7:c.316-248A>G ENSP00000292901.3:n.316-248A>G
ENST00000380299.3:c.362A>G ENSP00000369654.3:p.Lys121Arg
ENST00000417377.1:c.139A>G ENSP00000414741.1:p.Arg47Gly
NM_000519.3:c.362A>G NP_000510.1:p.Lys121Arg
NM_000519.4:c.362A>G MANE Select NP_000510.1:p.Lys121Arg
Search 100 bp 5'
Search 100 bp 3'