Canonical Allele Identifier: CA125438
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15554
ClinVar RCV Id: RCV000016820
dbSNP Id: rs33915112
MyVariant Identifiers: chr11:g.5248172T>C (hg19) chr11:g.5226942T>C (hg38)
PubMed: PMID:8811314
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226942T>C , CM000673.2:g.5226942T>C GRCh38
NC_000011.9:g.5248172T>C , CM000673.1:g.5248172T>C GRCh37
NC_000011.8:g.5204748T>C NCBI36
NG_000007.3:g.70674A>G
NG_059281.1:g.5130A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.80A>G ENSP00000494175.1:p.Glu27Gly
ENST00000335295.4:c.80A>G MANE Select ENSP00000333994.3:p.Glu27Gly
ENST00000380315.2:c.80A>G ENSP00000369671.2:p.Glu27Gly
ENST00000485743.1:n.131A>G
ENST00000633227.1:c.76+4A>G ENSP00000488004.1:n.76+4A>G
NM_000518.4:c.80A>G NP_000509.1:p.Glu27Gly
NM_000518.5:c.80A>G MANE Select NP_000509.1:p.Glu27Gly
Search 100 bp 5'
Search 100 bp 3'