Canonical Allele Identifier: CA124718
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15093
ClinVar RCV Id: RCV000016246
dbSNP Id: rs34866629
MyVariant Identifiers: chr11:g.5248194T>C (hg19) chr11:g.5226964T>C (hg38)
PubMed: PMID:914645 PMID:3623973
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226964T>C , CM000673.2:g.5226964T>C GRCh38
NC_000011.9:g.5248194T>C , CM000673.1:g.5248194T>C GRCh37
NC_000011.8:g.5204770T>C NCBI36
NG_000007.3:g.70652A>G
NG_059281.1:g.5108A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.58A>G ENSP00000494175.1:p.Asn20Asp
ENST00000335295.4:c.58A>G MANE Select ENSP00000333994.3:p.Asn20Asp
ENST00000380315.2:c.58A>G ENSP00000369671.2:p.Asn20Asp
ENST00000485743.1:n.109A>G
ENST00000633227.1:c.58A>G ENSP00000488004.1:p.Asn20Asp
NM_000518.4:c.58A>G NP_000509.1:p.Asn20Asp
NM_000518.5:c.58A>G MANE Select NP_000509.1:p.Asn20Asp
Search 100 bp 5'
Search 100 bp 3'