Canonical Allele Identifier: CA1949566013
Gene: HBD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234476G= , CM000673.2:g.5234476G= GRCh38
NC_000011.9:g.5255706G= , CM000673.1:g.5255706G= GRCh37
NC_000011.8:g.5212282G= NCBI36
NG_000007.3:g.63140C=
NG_063112.2:g.14182C=

Transcript Alleles

HGVS Amino-acid change
ENST00000643122.1:c.-28-15C= ENSP00000494708.1:n.-28-15C=
ENST00000650601.1:c.-43C= MANE Select ENSP00000497529.1:n.-43C=
ENST00000292901.7:c.-43C= ENSP00000292901.3:n.-43C=
ENST00000380299.3:c.-43C= ENSP00000369654.3:n.-43C=
ENST00000417377.1:c.-43C= ENSP00000414741.1:n.-43C=
ENST00000429817.1:c.-43C= ENSP00000393810.1:n.-43C=
NM_000519.3:c.-43C= NP_000510.1:n.-43C=
NM_000519.4:c.-43C= MANE Select NP_000510.1:n.-43C=