Canonical Allele Identifier: CA379276416
Gene: HBD HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.5254217C>T (hg19) chr11:g.5232987C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5232987C>T , CM000673.2:g.5232987C>T GRCh38
NC_000011.9:g.5254217C>T , CM000673.1:g.5254217C>T GRCh37
NC_000011.8:g.5210793C>T NCBI36
NG_000007.3:g.64629G>A
NG_063112.2:g.15671G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000643122.1:c.421G>A ENSP00000494708.1:p.Ala141Thr
ENST00000650601.1:c.421G>A MANE Select ENSP00000497529.1:p.Ala141Thr
ENST00000292901.7:c.316-189G>A ENSP00000292901.3:n.316-189G>A
ENST00000380299.3:c.421G>A ENSP00000369654.3:p.Ala141Thr
ENST00000417377.1:c.198G>A ENSP00000414741.1:p.Met66Ile
NM_000519.3:c.421G>A NP_000510.1:p.Ala141Thr
NM_000519.4:c.421G>A MANE Select NP_000510.1:p.Ala141Thr
Search 100 bp 5'
Search 100 bp 3'