Canonical Allele Identifier: CA125376

Gene: HBB

Linked Data

• ClinVar Variation Id: 15513
• ClinVar RCV Id: RCV000016776 ; RCV000016777 ; RCV000016775 ; RCV000759070 ; RCV001731305 ; RCV001826469
• dbSNP Id: rs36015961
• MyVariant Identifiers: chr11:g.5246928A>G (hg19) ; chr11:g.5225698A>G (hg38)
• PubMed: PMID:1301199 ; PMID:3446652 ; PMID:10870887 ; PMID:11300352

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225698A>G , CM000673.2:g.5225698A>G	GRCh38
NC_000011.9:g.5246928A>G , CM000673.1:g.5246928A>G	GRCh37
NC_000011.8:g.5203504A>G	NCBI36
NG_000007.3:g.71918T>C
NG_059281.1:g.6374T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.344T>C	ENSP00000494175.1:p.Leu115Pro
ENST00000335295.4:c.344T>C MANE Select	ENSP00000333994.3:p.Leu115Pro
ENST00000475226.1:n.276T>C
ENST00000633227.1:c.*160T>C	ENSP00000488004.1:n.*160T>C
NM_000518.4:c.344T>C	NP_000509.1:p.Leu115Pro
NM_000518.5:c.344T>C MANE Select	NP_000509.1:p.Leu115Pro