Canonical Allele Identifier: CA1949563587

Gene: HBD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5232992G= , CM000673.2:g.5232992G=	GRCh38
NC_000011.9:g.5254222G= , CM000673.1:g.5254222G=	GRCh37
NC_000011.8:g.5210798G=	NCBI36
NG_000007.3:g.64624C=
NG_063112.2:g.15666C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000643122.1:c.416C=	ENSP00000494708.1:p.Ala139=
ENST00000650601.1:c.416C= MANE Select	ENSP00000497529.1:p.Ala139=
ENST00000292901.7:c.316-194C=	ENSP00000292901.3:n.316-194C=
ENST00000380299.3:c.416C=	ENSP00000369654.3:p.Ala139=
ENST00000417377.1:c.193C=	ENSP00000414741.1:p.Leu65=
NM_000519.3:c.416C=	NP_000510.1:p.Ala139=
NM_000519.4:c.416C= MANE Select	NP_000510.1:p.Ala139=