Canonical Allele Identifier: CA1949568154

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226658G= , CM000673.2:g.5226658G=	GRCh38
NC_000011.9:g.5247888G= , CM000673.1:g.5247888G=	GRCh37
NC_000011.8:g.5204464G=	NCBI36
NG_000007.3:g.70958C=
NG_059281.1:g.5414C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.234C=	ENSP00000494175.1:p.His78=
ENST00000335295.4:c.234C= MANE Select	ENSP00000333994.3:p.His78=
ENST00000380315.2:c.234C=	ENSP00000369671.2:p.His78=
ENST00000475226.1:n.166C=
ENST00000485743.1:n.285C=
ENST00000633227.1:c.*50C=	ENSP00000488004.1:n.*50C=
NM_000518.4:c.234C=	NP_000509.1:p.His78=
NM_000518.5:c.234C= MANE Select	NP_000509.1:p.His78=