Canonical Allele Identifier: CA2574735597
Gene: HBB HGNC NCBI

Linked Data

gnomAD v4: 11-5226542-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226542G>T , CM000673.2:g.5226542G>T GRCh38
NC_000011.9:g.5247772G>T , CM000673.1:g.5247772G>T GRCh37
NC_000011.8:g.5204348G>T NCBI36
NG_000007.3:g.71074C>A
NG_059281.1:g.5530C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.315+35C>A ENSP00000494175.1:n.315+35C>A
ENST00000335295.4:c.315+35C>A MANE Select ENSP00000333994.3:n.315+35C>A
ENST00000475226.1:n.247+35C>A
ENST00000485743.1:n.401C>A
ENST00000633227.1:c.*131+35C>A ENSP00000488004.1:n.*131+35C>A
NM_000518.4:c.315+35C>A NP_000509.1:n.315+35C>A
NM_000518.5:c.315+35C>A MANE Select NP_000509.1:n.315+35C>A
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