Canonical Allele Identifier: CA1949565999
Gene: HBD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234463T= , CM000673.2:g.5234463T= GRCh38
NC_000011.9:g.5255693T= , CM000673.1:g.5255693T= GRCh37
NC_000011.8:g.5212269T= NCBI36
NG_000007.3:g.63153A=
NG_063112.2:g.14195A=

Transcript Alleles

HGVS Amino-acid change
ENST00000643122.1:c.-28-2A= ENSP00000494708.1:n.-28-2A=
ENST00000650601.1:c.-30A= MANE Select ENSP00000497529.1:n.-30A=
ENST00000292901.7:c.-30A= ENSP00000292901.3:n.-30A=
ENST00000380299.3:c.-30A= ENSP00000369654.3:n.-30A=
ENST00000417377.1:c.-30A= ENSP00000414741.1:n.-30A=
ENST00000429817.1:c.-30A= ENSP00000393810.1:n.-30A=
NM_000519.3:c.-30A= NP_000510.1:n.-30A=
NM_000519.4:c.-30A= MANE Select NP_000510.1:n.-30A=