Canonical Allele Identifier: CA1949566007
Gene: HBD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234472A= , CM000673.2:g.5234472A= GRCh38
NC_000011.9:g.5255702A= , CM000673.1:g.5255702A= GRCh37
NC_000011.8:g.5212278A= NCBI36
NG_000007.3:g.63144T=
NG_063112.2:g.14186T=

Transcript Alleles

HGVS Amino-acid change
ENST00000643122.1:c.-28-11T= ENSP00000494708.1:n.-28-11T=
ENST00000650601.1:c.-39T= MANE Select ENSP00000497529.1:n.-39T=
ENST00000292901.7:c.-39T= ENSP00000292901.3:n.-39T=
ENST00000380299.3:c.-39T= ENSP00000369654.3:n.-39T=
ENST00000417377.1:c.-39T= ENSP00000414741.1:n.-39T=
ENST00000429817.1:c.-39T= ENSP00000393810.1:n.-39T=
NM_000519.3:c.-39T= NP_000510.1:n.-39T=
NM_000519.4:c.-39T= MANE Select NP_000510.1:n.-39T=