Canonical Allele Identifier: CA1949566015
Gene: HBD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234477A= , CM000673.2:g.5234477A= GRCh38
NC_000011.9:g.5255707A= , CM000673.1:g.5255707A= GRCh37
NC_000011.8:g.5212283A= NCBI36
NG_000007.3:g.63139T=
NG_063112.2:g.14181T=

Transcript Alleles

HGVS Amino-acid change
ENST00000643122.1:c.-28-16T= ENSP00000494708.1:n.-28-16T=
ENST00000650601.1:c.-44T= MANE Select ENSP00000497529.1:n.-44T=
ENST00000292901.7:c.-44T= ENSP00000292901.3:n.-44T=
ENST00000380299.3:c.-44T= ENSP00000369654.3:n.-44T=
ENST00000417377.1:c.-44T= ENSP00000414741.1:n.-44T=
ENST00000429817.1:c.-44T= ENSP00000393810.1:n.-44T=
NM_000519.3:c.-44T= NP_000510.1:n.-44T=
NM_000519.4:c.-44T= MANE Select NP_000510.1:n.-44T=