Canonical Allele Identifier: CA2579829142
Gene: HBB HGNC NCBI

Linked Data

gnomAD v4: 11-5227084-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227084G>T , CM000673.2:g.5227084G>T GRCh38
NC_000011.9:g.5248314G>T , CM000673.1:g.5248314G>T GRCh37
NC_000011.8:g.5204890G>T NCBI36
NG_000007.3:g.70532C>A
NG_059281.1:g.4988C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.-63C>A ENSP00000494175.1:n.-63C>A
ENST00000380315.2:c.-18-45C>A ENSP00000369671.2:n.-18-45C>A
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