Canonical Allele Identifier: CA036550

Gene: HBB

Linked Data

• PubMed: PMID:893139

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.[5226606T>C;5227003C>T] , CM000673.2:g.[5226606T>C;5227003C>T]	GRCh38
NC_000011.9:g.[5247836T>C;5248233C>T] , CM000673.1:g.[5247836T>C;5248233C>T]	GRCh37
NC_000011.8:g.[5204412T>C;5204809C>T]	NCBI36
NG_000007.3:g.[70613G>A;71010A>G]
NG_059281.1:g.[5069G>A;5466A>G]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.[19G>A;286A>G]	ENSP00000494175.1:p.[Glu7Lys;Lys96Glu]
ENST00000335295.4:c.[19G>A;286A>G] MANE Select	ENSP00000333994.3:p.[Glu7Lys;Lys96Glu]
ENST00000485743.1:n.[70G>A;337A>G]
ENST00000633227.1:c.[19G>A;*102A>G]	ENSP00000488004.1:[p.Glu7Lys;n.*102A>G]
NM_000518.4:c.[19G>A;286A>G]	NP_000509.1:p.[Glu7Lys;Lys96Glu]
NM_000518.5:c.[19G>A;286A>G] MANE Select	NP_000509.1:p.[Glu7Lys;Lys96Glu]