Canonical Allele Identifier: CA2499221012
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1141382
ClinVar RCV Id: RCV001478820
dbSNP Id: rs2133586768
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225949A>T , CM000673.2:g.5225949A>T GRCh38
NC_000011.9:g.5247179A>T , CM000673.1:g.5247179A>T GRCh37
NC_000011.8:g.5203755A>T NCBI36
NG_000007.3:g.71667T>A
NG_059281.1:g.6123T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.316-223T>A ENSP00000494175.1:n.316-223T>A
ENST00000335295.4:c.316-223T>A MANE Select ENSP00000333994.3:n.316-223T>A
ENST00000475226.1:n.248-223T>A
ENST00000633227.1:c.*132-223T>A ENSP00000488004.1:n.*132-223T>A
NM_000518.4:c.316-223T>A NP_000509.1:n.316-223T>A
NM_000518.5:c.316-223T>A MANE Select NP_000509.1:n.316-223T>A
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