Canonical Allele Identifier: CA934688338
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs1589893221
gnomAD v3: 11-5226900-T-G
gnomAD v4: 11-5226900-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226900T>G , CM000673.2:g.5226900T>G GRCh38
NC_000011.9:g.5248130T>G , CM000673.1:g.5248130T>G GRCh37
NC_000011.8:g.5204706T>G NCBI36
NG_000007.3:g.70716A>C
NG_059281.1:g.5172A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.92+30A>C ENSP00000494175.1:n.92+30A>C
ENST00000335295.4:c.92+30A>C MANE Select ENSP00000333994.3:n.92+30A>C
ENST00000380315.2:c.92+30A>C ENSP00000369671.2:n.92+30A>C
ENST00000485743.1:n.143+30A>C
ENST00000633227.1:c.76+46A>C ENSP00000488004.1:n.76+46A>C
NM_000518.4:c.92+30A>C NP_000509.1:n.92+30A>C
NM_000518.5:c.92+30A>C MANE Select NP_000509.1:n.92+30A>C
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