Canonical Allele Identifier: CA2574735576
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225796G>A , CM000673.2:g.5225796G>A GRCh38
NC_000011.9:g.5247026G>A , CM000673.1:g.5247026G>A GRCh37
NC_000011.8:g.5203602G>A NCBI36
NG_000007.3:g.71820C>T
NG_059281.1:g.6276C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.316-70C>T ENSP00000494175.1:n.316-70C>T
ENST00000335295.4:c.316-70C>T MANE Select ENSP00000333994.3:n.316-70C>T
ENST00000475226.1:n.248-70C>T
ENST00000633227.1:c.*132-70C>T ENSP00000488004.1:n.*132-70C>T
NM_000518.4:c.316-70C>T NP_000509.1:n.316-70C>T
NM_000518.5:c.316-70C>T MANE Select NP_000509.1:n.316-70C>T
Search 100 bp 5'
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