Canonical Allele Identifier: CA2579829332
Gene: HBB HGNC NCBI

Linked Data

gnomAD v4: 11-5227163-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227163G>T , CM000673.2:g.5227163G>T GRCh38
NC_000011.9:g.5248393G>T , CM000673.1:g.5248393G>T GRCh37
NC_000011.8:g.5204969G>T NCBI36
NG_000007.3:g.70453C>A
NG_059281.1:g.4909C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.-142C>A ENSP00000494175.1:n.-142C>A
ENST00000380315.2:c.-18-124C>A ENSP00000369671.2:n.-18-124C>A
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