Canonical Allele Identifier: CA1949565311
Gene: HBD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234163T= , CM000673.2:g.5234163T= GRCh38
NC_000011.9:g.5255393T= , CM000673.1:g.5255393T= GRCh37
NC_000011.8:g.5211969T= NCBI36
NG_000007.3:g.63453A=
NG_063112.2:g.14495A=

Transcript Alleles

HGVS Amino-acid change
ENST00000643122.1:c.143A= ENSP00000494708.1:p.Asp48=
ENST00000650601.1:c.143A= MANE Select ENSP00000497529.1:p.Asp48=
ENST00000292901.7:c.143A= ENSP00000292901.3:p.Asp48=
ENST00000380299.3:c.143A= ENSP00000369654.3:p.Asp48=
ENST00000417377.1:c.92+179A= ENSP00000414741.1:n.92+179A=
ENST00000429817.1:c.143A= ENSP00000393810.1:p.Asp48=
NM_000519.3:c.143A= NP_000510.1:p.Asp48=
NM_000519.4:c.143A= MANE Select NP_000510.1:p.Asp48=