Canonical Allele Identifier: CA2574735718
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227106C>A , CM000673.2:g.5227106C>A GRCh38
NC_000011.9:g.5248336C>A , CM000673.1:g.5248336C>A GRCh37
NC_000011.8:g.5204912C>A NCBI36
NG_000007.3:g.70510G>T
NG_059281.1:g.4966G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.-85G>T ENSP00000494175.1:n.-85G>T
ENST00000380315.2:c.-18-67G>T ENSP00000369671.2:n.-18-67G>T
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