Canonical Allele Identifier: CA379273794

Gene: HBB

Linked Data

• MyVariant Identifiers: chr11:g.5247850T>G (hg19) ; chr11:g.5226620T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226620T>G , CM000673.2:g.5226620T>G	GRCh38
NC_000011.9:g.5247850T>G , CM000673.1:g.5247850T>G	GRCh37
NC_000011.8:g.5204426T>G	NCBI36
NG_000007.3:g.70996A>C
NG_059281.1:g.5452A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.272A>C	ENSP00000494175.1:p.Glu91Ala
ENST00000335295.4:c.272A>C MANE Select	ENSP00000333994.3:p.Glu91Ala
ENST00000380315.2:c.272A>C
ENST00000475226.1:n.204A>C
ENST00000485743.1:n.323A>C
ENST00000633227.1:c.*88A>C	ENSP00000488004.1:n.*88A>C
NM_000518.4:c.272A>C	NP_000509.1:p.Glu91Ala
NM_000518.5:c.272A>C MANE Select	NP_000509.1:p.Glu91Ala