Canonical Allele Identifier: CA124877

Gene: HBB

Linked Data

• ClinVar Variation Id: 15183
• ClinVar RCV Id: RCV000016362 ; RCV000016363 ; RCV001731302
• dbSNP Id: rs33916412
• MyVariant Identifiers: chr11:g.5248166A>G (hg19) ; chr11:g.5226936A>G (hg38)
• PubMed: PMID:2105568 ; PMID:6054966 ; PMID:6998928 ; PMID:7353889

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226936A>G , CM000673.2:g.5226936A>G	GRCh38
NC_000011.9:g.5248166A>G , CM000673.1:g.5248166A>G	GRCh37
NC_000011.8:g.5204742A>G	NCBI36
NG_000007.3:g.70680T>C
NG_059281.1:g.5136T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.86T>C	ENSP00000494175.1:p.Leu29Pro
ENST00000335295.4:c.86T>C MANE Select	ENSP00000333994.3:p.Leu29Pro
ENST00000380315.2:c.86T>C	ENSP00000369671.2:p.Leu29Pro
ENST00000485743.1:n.137T>C
ENST00000633227.1:c.76+10T>C	ENSP00000488004.1:n.76+10T>C
NM_000518.4:c.86T>C	NP_000509.1:p.Leu29Pro
NM_000518.5:c.86T>C MANE Select	NP_000509.1:p.Leu29Pro