Canonical Allele Identifier: CA217112387
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1330067
ClinVar RCV Id: RCV001801084
dbSNP Id: rs33946775
MyVariant Identifiers: chr11:g.5246873T>A (hg19) chr11:g.5225643T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225643T>A , CM000673.2:g.5225643T>A GRCh38
NC_000011.9:g.5246873T>A , CM000673.1:g.5246873T>A GRCh37
NC_000011.8:g.5203449T>A NCBI36
NG_000007.3:g.71973A>T
NG_059281.1:g.6429A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.399A>T ENSP00000494175.1:p.Lys133Asn
ENST00000335295.4:c.399A>T MANE Select ENSP00000333994.3:p.Lys133Asn
ENST00000633227.1:c.*215A>T ENSP00000488004.1:n.*215A>T
NM_000518.4:c.399A>T NP_000509.1:p.Lys133Asn
NM_000518.5:c.399A>T MANE Select NP_000509.1:p.Lys133Asn
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