Canonical Allele Identifier: CA2579829141
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227085C>A , CM000673.2:g.5227085C>A GRCh38
NC_000011.9:g.5248315C>A , CM000673.1:g.5248315C>A GRCh37
NC_000011.8:g.5204891C>A NCBI36
NG_000007.3:g.70531G>T
NG_059281.1:g.4987G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.-64G>T ENSP00000494175.1:n.-64G>T
ENST00000380315.2:c.-18-46G>T ENSP00000369671.2:n.-18-46G>T
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