Canonical Allele Identifier: CA037441

Gene: HBB

Linked Data

• PubMed: PMID:3841063

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.[5226633C>G;5226723C>G] , CM000673.2:g.[5226633C>G;5226723C>G]	GRCh38
NC_000011.9:g.[5247863C>G;5247953C>G] , CM000673.1:g.[5247863C>G;5247953C>G]	GRCh37
NC_000011.8:g.[5204439C>G;5204529C>G]	NCBI36
NG_000007.3:g.[70893G>C;70983G>C]
NG_059281.1:g.[5349G>C;5439G>C]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.[169G>C;259G>C]	ENSP00000494175.1:p.[Gly57Arg;Ala87Pro]
ENST00000335295.4:c.[169G>C;259G>C] MANE Select	ENSP00000333994.3:p.[Gly57Arg;Ala87Pro]
ENST00000380315.2:c.[169G>C;259G>C]	ENSP00000369671.2:p.[Gly57Arg;Ala87Pro]
ENST00000475226.1:n.[101G>C;191G>C]
ENST00000485743.1:n.[220G>C;310G>C]
ENST00000633227.1:c.[153G>C;*75G>C]	ENSP00000488004.1:[p.Trp51Cys;n.*75G>C]
NM_000518.4:c.[169G>C;259G>C]	NP_000509.1:p.[Gly57Arg;Ala87Pro]
NM_000518.5:c.[169G>C;259G>C] MANE Select	NP_000509.1:p.[Gly57Arg;Ala87Pro]