Canonical Allele Identifier: CA2612162125
Gene: HBB HGNC NCBI

Linked Data

gnomAD v4: 11-5225473-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225473A>C , CM000673.2:g.5225473A>C GRCh38
NC_000011.9:g.5246703A>C , CM000673.1:g.5246703A>C GRCh37
NC_000011.8:g.5203279A>C NCBI36
NG_000007.3:g.72143T>G
NG_059281.1:g.6599T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.*125T>G ENSP00000494175.1:n.*125T>G
ENST00000335295.4:c.*125T>G MANE Select ENSP00000333994.3:n.*125T>G
ENST00000633227.1:c.*385T>G ENSP00000488004.1:n.*385T>G
NM_000518.4:c.*125T>G NP_000509.1:n.*125T>G
NM_000518.5:c.*125T>G MANE Select NP_000509.1:n.*125T>G
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