Canonical Allele Identifier: CA2612162554
Gene: HBB HGNC NCBI

Linked Data

gnomAD v4: 11-5227249-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227249T>C , CM000673.2:g.5227249T>C GRCh38
NC_000011.9:g.5248479T>C , CM000673.1:g.5248479T>C GRCh37
NC_000011.8:g.5205055T>C NCBI36
NG_000007.3:g.70367A>G
NG_059281.1:g.4823A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380315.2:c.-18-210A>G ENSP00000369671.2:n.-18-210A>G
Search 100 bp 5'
Search 100 bp 3'