Canonical Allele Identifier: CA1949563573

Gene: HBD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5232988A= , CM000673.2:g.5232988A=	GRCh38
NC_000011.9:g.5254218A= , CM000673.1:g.5254218A=	GRCh37
NC_000011.8:g.5210794A=	NCBI36
NG_000007.3:g.64628T=
NG_063112.2:g.15670T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000643122.1:c.420T=	ENSP00000494708.1:p.Asn140=
ENST00000650601.1:c.420T= MANE Select	ENSP00000497529.1:p.Asn140=
ENST00000292901.7:c.316-190T=	ENSP00000292901.3:n.316-190T=
ENST00000380299.3:c.420T=	ENSP00000369654.3:p.Asn140=
ENST00000417377.1:c.197T=	ENSP00000414741.1:p.Met66=
NM_000519.3:c.420T=	NP_000510.1:p.Asn140=
NM_000519.4:c.420T= MANE Select	NP_000510.1:p.Asn140=