Canonical Allele Identifier: CA1949569471

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226774G= , CM000673.2:g.5226774G=	GRCh38
NC_000011.9:g.5248004G= , CM000673.1:g.5248004G=	GRCh37
NC_000011.8:g.5204580G=	NCBI36
NG_000007.3:g.70842C=
NG_059281.1:g.5298C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.118C=	ENSP00000494175.1:p.Gln40=
ENST00000335295.4:c.118C= MANE Select	ENSP00000333994.3:p.Gln40=
ENST00000380315.2:c.118C=	ENSP00000369671.2:p.Gln40=
ENST00000475226.1:n.50C=
ENST00000485743.1:n.169C=
ENST00000633227.1:c.102C=	ENSP00000488004.1:p.Pro34=
NM_000518.4:c.118C=	NP_000509.1:p.Gln40=
NM_000518.5:c.118C= MANE Select	NP_000509.1:p.Gln40=