Canonical Allele Identifier: CA379273789

Gene: HBB

Linked Data

• MyVariant Identifiers: chr11:g.5247844T>A (hg19) ; chr11:g.5226614T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226614T>A , CM000673.2:g.5226614T>A	GRCh38
NC_000011.9:g.5247844T>A , CM000673.1:g.5247844T>A	GRCh37
NC_000011.8:g.5204420T>A	NCBI36
NG_000007.3:g.71002A>T
NG_059281.1:g.5458A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.278A>T	ENSP00000494175.1:p.His93Leu
ENST00000335295.4:c.278A>T MANE Select	ENSP00000333994.3:p.His93Leu
ENST00000475226.1:n.210A>T
ENST00000485743.1:n.329A>T
ENST00000633227.1:c.*94A>T	ENSP00000488004.1:n.*94A>T
NM_000518.4:c.278A>T	NP_000509.1:p.His93Leu
NM_000518.5:c.278A>T MANE Select	NP_000509.1:p.His93Leu