Canonical Allele Identifier: CA1949564679
Gene: HBD HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5233851A= , CM000673.2:g.5233851A= GRCh38
NC_000011.9:g.5255081A= , CM000673.1:g.5255081A= GRCh37
NC_000011.8:g.5211657A= NCBI36
NG_000007.3:g.63765T=
NG_063112.2:g.14807T=

Transcript Alleles

HGVS Amino-acid change
ENST00000643122.1:c.315+140T= ENSP00000494708.1:n.315+140T=
ENST00000650601.1:c.315+140T= MANE Select ENSP00000497529.1:n.315+140T=
ENST00000292901.7:c.315+140T= ENSP00000292901.3:n.315+140T=
ENST00000380299.3:c.315+140T= ENSP00000369654.3:n.315+140T=
ENST00000417377.1:c.92+491T= ENSP00000414741.1:n.92+491T=
NM_000519.3:c.315+140T= NP_000510.1:n.315+140T=
NM_000519.4:c.315+140T= MANE Select NP_000510.1:n.315+140T=
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