Canonical Allele Identifier: CA2579829091
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227068A>G , CM000673.2:g.5227068A>G GRCh38
NC_000011.9:g.5248298A>G , CM000673.1:g.5248298A>G GRCh37
NC_000011.8:g.5204874A>G NCBI36
NG_000007.3:g.70548T>C
NG_059281.1:g.5004T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.-47T>C ENSP00000494175.1:n.-47T>C
ENST00000335295.4:c.-47T>C MANE Select ENSP00000333994.3:n.-47T>C
ENST00000380315.2:c.-18-29T>C ENSP00000369671.2:n.-18-29T>C
ENST00000485743.1:n.5T>C
ENST00000633227.1:c.-47T>C ENSP00000488004.1:n.-47T>C
NM_000518.4:c.-47T>C NP_000509.1:n.-47T>C
NM_000518.5:c.-47T>C MANE Select NP_000509.1:n.-47T>C
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