Canonical Allele Identifier: CA1949564614
Gene: HBD HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5233799T= , CM000673.2:g.5233799T= GRCh38
NC_000011.9:g.5255029T= , CM000673.1:g.5255029T= GRCh37
NC_000011.8:g.5211605T= NCBI36
NG_000007.3:g.63817A=
NG_063112.2:g.14859A=

Transcript Alleles

HGVS Amino-acid change
ENST00000643122.1:c.315+192A= ENSP00000494708.1:n.315+192A=
ENST00000650601.1:c.315+192A= MANE Select ENSP00000497529.1:n.315+192A=
ENST00000292901.7:c.315+192A= ENSP00000292901.3:n.315+192A=
ENST00000380299.3:c.315+192A= ENSP00000369654.3:n.315+192A=
ENST00000417377.1:c.92+543A= ENSP00000414741.1:n.92+543A=
NM_000519.3:c.315+192A= NP_000510.1:n.315+192A=
NM_000519.4:c.315+192A= MANE Select NP_000510.1:n.315+192A=
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