Canonical Allele Identifier: CA2790275059
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225514C>G , CM000673.2:g.5225514C>G GRCh38
NC_000011.9:g.5246744C>G , CM000673.1:g.5246744C>G GRCh37
NC_000011.8:g.5203320C>G NCBI36
NG_000007.3:g.72102G>C
NG_059281.1:g.6558G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.*84G>C ENSP00000494175.1:n.*84G>C
ENST00000335295.4:c.*84G>C MANE Select ENSP00000333994.3:n.*84G>C
ENST00000633227.1:c.*344G>C ENSP00000488004.1:n.*344G>C
NM_000518.4:c.*84G>C NP_000509.1:n.*84G>C
NM_000518.5:c.*84G>C MANE Select NP_000509.1:n.*84G>C
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