Canonical Allele Identifier: CA1949564056

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225601G= , CM000673.2:g.5225601G=	GRCh38
NC_000011.9:g.5246831G= , CM000673.1:g.5246831G=	GRCh37
NC_000011.8:g.5203407G=	NCBI36
NG_000007.3:g.72015C=
NG_059281.1:g.6471C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.441C=	ENSP00000494175.1:p.His147=
ENST00000335295.4:c.441C= MANE Select	ENSP00000333994.3:p.His147=
ENST00000633227.1:c.*257C=	ENSP00000488004.1:n.*257C=
NM_000518.4:c.441C=	NP_000509.1:p.His147=
NM_000518.5:c.441C= MANE Select	NP_000509.1:p.His147=