Canonical Allele Identifier: CA5839818

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226989G>T , CM000673.2:g.5226989G>T	GRCh38
NC_000011.9:g.5248219G>T , CM000673.1:g.5248219G>T	GRCh37
NC_000011.8:g.5204795G>T	NCBI36
NG_000007.3:g.70627C>A
NG_059281.1:g.5083C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000518.5:c.33C>A MANE Select	NP_000509.1:p.Ala11=
ENST00000335295.4:c.33C>A MANE Select	ENSP00000333994.3:p.Ala11=
NM_000518.4:c.33C>A	NP_000509.1:p.Ala11=
ENST00000380315.2:c.33C>A	ENSP00000369671.2:p.Ala11=
ENST00000485743.1:n.84C>A
ENST00000633227.1:c.33C>A	ENSP00000488004.1:p.Ala11=
ENST00000647020.1:c.33C>A	ENSP00000494175.1:p.Ala11=