Canonical Allele Identifier: CA217113906

Gene: HBB

Linked Data

• dbSNP Id: rs33952543
• MyVariant Identifiers: chr11:g.5247889T>G (hg19) ; chr11:g.5226659T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226659T>G , CM000673.2:g.5226659T>G	GRCh38
NC_000011.9:g.5247889T>G , CM000673.1:g.5247889T>G	GRCh37
NC_000011.8:g.5204465T>G	NCBI36
NG_000007.3:g.70957A>C
NG_059281.1:g.5413A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.233A>C	ENSP00000494175.1:p.His78Pro
ENST00000335295.4:c.233A>C MANE Select	ENSP00000333994.3:p.His78Pro
ENST00000380315.2:c.233A>C	ENSP00000369671.2:p.His78Pro
ENST00000475226.1:n.165A>C
ENST00000485743.1:n.284A>C
ENST00000633227.1:c.*49A>C	ENSP00000488004.1:n.*49A>C
NM_000518.4:c.233A>C	NP_000509.1:p.His78Pro
NM_000518.5:c.233A>C MANE Select	NP_000509.1:p.His78Pro