Canonical Allele Identifier: CA1949564920

Gene: HBD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5234013T= , CM000673.2:g.5234013T=	GRCh38
NC_000011.9:g.5255243T= , CM000673.1:g.5255243T=	GRCh37
NC_000011.8:g.5211819T=	NCBI36
NG_000007.3:g.63603A=
NG_063112.2:g.14645A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643122.1:c.293A=	ENSP00000494708.1:p.His98=
ENST00000650601.1:c.293A= MANE Select	ENSP00000497529.1:p.His98=
ENST00000292901.7:c.293A=	ENSP00000292901.3:p.His98=
ENST00000380299.3:c.293A=	ENSP00000369654.3:p.His98=
ENST00000417377.1:c.92+329A=	ENSP00000414741.1:n.92+329A=
ENST00000429817.1:c.293A=	ENSP00000393810.1:p.His98=
NM_000519.3:c.293A=	NP_000510.1:p.His98=
NM_000519.4:c.293A= MANE Select	NP_000510.1:p.His98=