Canonical Allele Identifier: CA2612162245
Gene: HBB HGNC NCBI

Linked Data

gnomAD v4: 11-5225575-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225575A>G , CM000673.2:g.5225575A>G GRCh38
NC_000011.9:g.5246805A>G , CM000673.1:g.5246805A>G GRCh37
NC_000011.8:g.5203381A>G NCBI36
NG_000007.3:g.72041T>C
NG_059281.1:g.6497T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.*23T>C ENSP00000494175.1:n.*23T>C
ENST00000335295.4:c.*23T>C MANE Select ENSP00000333994.3:n.*23T>C
ENST00000633227.1:c.*283T>C ENSP00000488004.1:n.*283T>C
NM_000518.4:c.*23T>C NP_000509.1:n.*23T>C
NM_000518.5:c.*23T>C MANE Select NP_000509.1:n.*23T>C
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