Canonical Allele Identifier: CA379276788
Gene: HBD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234028T>A , CM000673.2:g.5234028T>A GRCh38
NC_000011.9:g.5255258T>A , CM000673.1:g.5255258T>A GRCh37
NC_000011.8:g.5211834T>A NCBI36
NG_000007.3:g.63588A>T
NG_063112.2:g.14630A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000643122.1:c.278A>T ENSP00000494708.1:p.His93Leu
ENST00000650601.1:c.278A>T MANE Select ENSP00000497529.1:p.His93Leu
ENST00000292901.7:c.278A>T ENSP00000292901.3:p.His93Leu
ENST00000380299.3:c.278A>T ENSP00000369654.3:p.His93Leu
ENST00000417377.1:c.92+314A>T ENSP00000414741.1:n.92+314A>T
ENST00000429817.1:c.278A>T ENSP00000393810.1:p.His93Leu
NM_000519.3:c.278A>T NP_000510.1:p.His93Leu
NM_000519.4:c.278A>T MANE Select NP_000510.1:p.His93Leu