Canonical Allele Identifier: CA1949564751

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225663C= , CM000673.2:g.5225663C=	GRCh38
NC_000011.9:g.5246893C= , CM000673.1:g.5246893C=	GRCh37
NC_000011.8:g.5203469C=	NCBI36
NG_000007.3:g.71953G=
NG_059281.1:g.6409G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.379G=	ENSP00000494175.1:p.Val127=
ENST00000335295.4:c.379G= MANE Select	ENSP00000333994.3:p.Val127=
ENST00000475226.1:n.311G=
ENST00000633227.1:c.*195G=	ENSP00000488004.1:n.*195G=
NM_000518.4:c.379G=	NP_000509.1:p.Val127=
NM_000518.5:c.379G= MANE Select	NP_000509.1:p.Val127=