Canonical Allele Identifier: CA1949563569

Gene: HBD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5232986G= , CM000673.2:g.5232986G=	GRCh38
NC_000011.9:g.5254216G= , CM000673.1:g.5254216G=	GRCh37
NC_000011.8:g.5210792G=	NCBI36
NG_000007.3:g.64630C=
NG_063112.2:g.15672C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643122.1:c.422C=	ENSP00000494708.1:p.Ala141=
ENST00000650601.1:c.422C= MANE Select	ENSP00000497529.1:p.Ala141=
ENST00000292901.7:c.316-188C=	ENSP00000292901.3:n.316-188C=
ENST00000380299.3:c.422C=	ENSP00000369654.3:p.Ala141=
ENST00000417377.1:c.199C=	ENSP00000414741.1:p.Pro67=
NM_000519.3:c.422C=	NP_000510.1:p.Ala141=
NM_000519.4:c.422C= MANE Select	NP_000510.1:p.Ala141=