Canonical Allele Identifier: CA2579829191
Gene: HBB HGNC NCBI

Linked Data

gnomAD v4: 11-5227109-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227109C>T , CM000673.2:g.5227109C>T GRCh38
NC_000011.9:g.5248339C>T , CM000673.1:g.5248339C>T GRCh37
NC_000011.8:g.5204915C>T NCBI36
NG_000007.3:g.70507G>A
NG_059281.1:g.4963G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.-88G>A ENSP00000494175.1:n.-88G>A
ENST00000380315.2:c.-18-70G>A ENSP00000369671.2:n.-18-70G>A
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