Canonical Allele Identifier: CA2499221021
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1077506
ClinVar RCV Id: RCV001392086
dbSNP Id: rs2133586926
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226087C>A , CM000673.2:g.5226087C>A GRCh38
NC_000011.9:g.5247317C>A , CM000673.1:g.5247317C>A GRCh37
NC_000011.8:g.5203893C>A NCBI36
NG_000007.3:g.71529G>T
NG_059281.1:g.5985G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.316-361G>T ENSP00000494175.1:n.316-361G>T
ENST00000335295.4:c.316-361G>T MANE Select ENSP00000333994.3:n.316-361G>T
ENST00000475226.1:n.248-361G>T
ENST00000633227.1:c.*132-361G>T ENSP00000488004.1:n.*132-361G>T
NM_000518.4:c.316-361G>T NP_000509.1:n.316-361G>T
NM_000518.5:c.316-361G>T MANE Select NP_000509.1:n.316-361G>T
Search 100 bp 5'
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