Canonical Allele Identifier: CA124839

Gene: HBB

Linked Data

• ClinVar Variation Id: 15162
• ClinVar RCV Id: RCV000016333 ; RCV000757362
• dbSNP Id: rs33959855
• gnomAD v3: 11-5226955-C-T
• gnomAD v4: 11-5226955-C-T
• MyVariant Identifiers: chr11:g.5248185C>T (hg19) ; chr11:g.5226955C>T (hg38)
• PubMed: PMID:2283299 ; PMID:6021187 ; PMID:8718699 ; PMID:11791874

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226955C>T , CM000673.2:g.5226955C>T	GRCh38
NC_000011.9:g.5248185C>T , CM000673.1:g.5248185C>T	GRCh37
NC_000011.8:g.5204761C>T	NCBI36
NG_000007.3:g.70661G>A
NG_059281.1:g.5117G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.67G>A	ENSP00000494175.1:p.Glu23Lys
ENST00000335295.4:c.67G>A MANE Select	ENSP00000333994.3:p.Glu23Lys
ENST00000380315.2:c.67G>A	ENSP00000369671.2:p.Glu23Lys
ENST00000485743.1:n.118G>A
ENST00000633227.1:c.67G>A	ENSP00000488004.1:p.Glu23Lys
NM_000518.4:c.67G>A	NP_000509.1:p.Glu23Lys
NM_000518.5:c.67G>A MANE Select	NP_000509.1:p.Glu23Lys