Canonical Allele Identifier: CA217114215

Gene: HBB

Linked Data

• dbSNP Id: rs33991472
• MyVariant Identifiers: chr11:g.5247946G>T (hg19) ; chr11:g.5226716G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226716G>T , CM000673.2:g.5226716G>T	GRCh38
NC_000011.9:g.5247946G>T , CM000673.1:g.5247946G>T	GRCh37
NC_000011.8:g.5204522G>T	NCBI36
NG_000007.3:g.70900C>A
NG_059281.1:g.5356C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.176C>A	ENSP00000494175.1:p.Pro59His
ENST00000335295.4:c.176C>A MANE Select	ENSP00000333994.3:p.Pro59His
ENST00000380315.2:c.176C>A	ENSP00000369671.2:p.Pro59His
ENST00000475226.1:n.108C>A
ENST00000485743.1:n.227C>A
ENST00000633227.1:c.160C>A	ENSP00000488004.1:p.Leu54Ile
NM_000518.4:c.176C>A	NP_000509.1:p.Pro59His
NM_000518.5:c.176C>A MANE Select	NP_000509.1:p.Pro59His