Canonical Allele Identifier: CA1949565316
Gene: HBD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234165C= , CM000673.2:g.5234165C= GRCh38
NC_000011.9:g.5255395C= , CM000673.1:g.5255395C= GRCh37
NC_000011.8:g.5211971C= NCBI36
NG_000007.3:g.63451G=
NG_063112.2:g.14493G=

Transcript Alleles

HGVS Amino-acid change
ENST00000643122.1:c.141G= ENSP00000494708.1:p.Gly47=
ENST00000650601.1:c.141G= MANE Select ENSP00000497529.1:p.Gly47=
ENST00000292901.7:c.141G= ENSP00000292901.3:p.Gly47=
ENST00000380299.3:c.141G= ENSP00000369654.3:p.Gly47=
ENST00000417377.1:c.92+177G= ENSP00000414741.1:n.92+177G=
ENST00000429817.1:c.141G= ENSP00000393810.1:p.Gly47=
NM_000519.3:c.141G= NP_000510.1:p.Gly47=
NM_000519.4:c.141G= MANE Select NP_000510.1:p.Gly47=