Canonical Allele Identifier: CA2573147116
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1556960
ClinVar RCV Id: RCV002194604
dbSNP Id: rs558455574
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225946G>A , CM000673.2:g.5225946G>A GRCh38
NC_000011.9:g.5247176G>A , CM000673.1:g.5247176G>A GRCh37
NC_000011.8:g.5203752G>A NCBI36
NG_000007.3:g.71670C>T
NG_059281.1:g.6126C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.316-220C>T ENSP00000494175.1:n.316-220C>T
ENST00000335295.4:c.316-220C>T MANE Select ENSP00000333994.3:n.316-220C>T
ENST00000475226.1:n.248-220C>T
ENST00000633227.1:c.*132-220C>T ENSP00000488004.1:n.*132-220C>T
NM_000518.4:c.316-220C>T NP_000509.1:n.316-220C>T
NM_000518.5:c.316-220C>T MANE Select NP_000509.1:n.316-220C>T
Search 100 bp 5'
Search 100 bp 3'