Canonical Allele Identifier: CA125145

Gene: HBB

Linked Data

• ClinVar Variation Id: 15341
• ClinVar RCV Id: RCV000016584 ; RCV000508682 ; RCV001527030 ; RCV001826467 ; RCV002490377
• dbSNP Id: rs33935445
• gnomAD v3: 11-5226978-A-G
• gnomAD v4: 11-5226978-A-G
• MyVariant Identifiers: chr11:g.5248208A>G (hg19) ; chr11:g.5226978A>G (hg38)
• PubMed: PMID:237566 ; PMID:998617 ; PMID:5481775 ; PMID:19429541

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226978A>G , CM000673.2:g.5226978A>G	GRCh38
NC_000011.9:g.5248208A>G , CM000673.1:g.5248208A>G	GRCh37
NC_000011.8:g.5204784A>G	NCBI36
NG_000007.3:g.70638T>C
NG_059281.1:g.5094T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.44T>C	ENSP00000494175.1:p.Leu15Pro
ENST00000335295.4:c.44T>C MANE Select	ENSP00000333994.3:p.Leu15Pro
ENST00000380315.2:c.44T>C	ENSP00000369671.2:p.Leu15Pro
ENST00000485743.1:n.95T>C
ENST00000633227.1:c.44T>C	ENSP00000488004.1:p.Leu15Pro
NM_000518.4:c.44T>C	NP_000509.1:p.Leu15Pro
NM_000518.5:c.44T>C MANE Select	NP_000509.1:p.Leu15Pro