Canonical Allele Identifier: CA124744

Gene: HBB

Linked Data

• ClinVar Variation Id: 15108
• ClinVar RCV Id: RCV000016262
• dbSNP Id: rs33940204
• MyVariant Identifiers: chr11:g.5247856A>C (hg19) ; chr11:g.5226626A>C (hg38)
• PubMed: PMID:3623976 ; PMID:5789325

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226626A>C , CM000673.2:g.5226626A>C	GRCh38
NC_000011.9:g.5247856A>C , CM000673.1:g.5247856A>C	GRCh37
NC_000011.8:g.5204432A>C	NCBI36
NG_000007.3:g.70990T>G
NG_059281.1:g.5446T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.266T>G	ENSP00000494175.1:p.Leu89Arg
ENST00000335295.4:c.266T>G MANE Select	ENSP00000333994.3:p.Leu89Arg
ENST00000380315.2:c.266T>G	ENSP00000369671.2:p.Leu89Arg
ENST00000475226.1:n.198T>G
ENST00000485743.1:n.317T>G
ENST00000633227.1:c.*82T>G	ENSP00000488004.1:n.*82T>G
NM_000518.4:c.266T>G	NP_000509.1:p.Leu89Arg
NM_000518.5:c.266T>G MANE Select	NP_000509.1:p.Leu89Arg