Canonical Allele Identifier: CA379276526
Gene: HBD HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.5254258A>C (hg19) chr11:g.5233028A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5233028A>C , CM000673.2:g.5233028A>C GRCh38
NC_000011.9:g.5254258A>C , CM000673.1:g.5254258A>C GRCh37
NC_000011.8:g.5210834A>C NCBI36
NG_000007.3:g.64588T>G
NG_063112.2:g.15630T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000643122.1:c.380T>G ENSP00000494708.1:p.Met127Arg
ENST00000650601.1:c.380T>G MANE Select ENSP00000497529.1:p.Met127Arg
ENST00000292901.7:c.316-230T>G ENSP00000292901.3:n.316-230T>G
ENST00000380299.3:c.380T>G ENSP00000369654.3:p.Met127Arg
ENST00000417377.1:c.157T>G ENSP00000414741.1:p.Cys53Gly
NM_000519.3:c.380T>G NP_000510.1:p.Met127Arg
NM_000519.4:c.380T>G MANE Select NP_000510.1:p.Met127Arg
Search 100 bp 5'
Search 100 bp 3'