Canonical Allele Identifier: CA124752

Gene: HBB

Linked Data

• ClinVar Variation Id: 15112
• ClinVar RCV Id: RCV000016267 ; RCV000641411
• dbSNP Id: rs33949869
• MyVariant Identifiers: chr11:g.5246836A>G (hg19) ; chr11:g.5225606A>G (hg38)
• PubMed: PMID:949044 ; PMID:4639015 ; PMID:5080413 ; PMID:5282843

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225606A>G , CM000673.2:g.5225606A>G	GRCh38
NC_000011.9:g.5246836A>G , CM000673.1:g.5246836A>G	GRCh37
NC_000011.8:g.5203412A>G	NCBI36
NG_000007.3:g.72010T>C
NG_059281.1:g.6466T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.436T>C	ENSP00000494175.1:p.Tyr146His
ENST00000335295.4:c.436T>C MANE Select	ENSP00000333994.3:p.Tyr146His
ENST00000633227.1:c.*252T>C	ENSP00000488004.1:n.*252T>C
NM_000518.4:c.436T>C	NP_000509.1:p.Tyr146His
NM_000518.5:c.436T>C MANE Select	NP_000509.1:p.Tyr146His