Canonical Allele Identifier: CA2612162526
Gene: HBB HGNC NCBI

Linked Data

gnomAD v4: 11-5227230-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227230G>A , CM000673.2:g.5227230G>A GRCh38
NC_000011.9:g.5248460G>A , CM000673.1:g.5248460G>A GRCh37
NC_000011.8:g.5205036G>A NCBI36
NG_000007.3:g.70386C>T
NG_059281.1:g.4842C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380315.2:c.-18-191C>T ENSP00000369671.2:n.-18-191C>T
Search 100 bp 5'
Search 100 bp 3'