Canonical Allele Identifier: CA2579829067
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227060A>G , CM000673.2:g.5227060A>G GRCh38
NC_000011.9:g.5248290A>G , CM000673.1:g.5248290A>G GRCh37
NC_000011.8:g.5204866A>G NCBI36
NG_000007.3:g.70556T>C
NG_059281.1:g.5012T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.-39T>C ENSP00000494175.1:n.-39T>C
ENST00000335295.4:c.-39T>C MANE Select ENSP00000333994.3:n.-39T>C
ENST00000380315.2:c.-18-21T>C ENSP00000369671.2:n.-18-21T>C
ENST00000485743.1:n.13T>C
ENST00000633227.1:c.-39T>C ENSP00000488004.1:n.-39T>C
NM_000518.4:c.-39T>C NP_000509.1:n.-39T>C
NM_000518.5:c.-39T>C MANE Select NP_000509.1:n.-39T>C
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