Canonical Allele Identifier: CA2574735557
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225536T>G , CM000673.2:g.5225536T>G GRCh38
NC_000011.9:g.5246766T>G , CM000673.1:g.5246766T>G GRCh37
NC_000011.8:g.5203342T>G NCBI36
NG_000007.3:g.72080A>C
NG_059281.1:g.6536A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.*62A>C ENSP00000494175.1:n.*62A>C
ENST00000335295.4:c.*62A>C MANE Select ENSP00000333994.3:n.*62A>C
ENST00000633227.1:c.*322A>C ENSP00000488004.1:n.*322A>C
NM_000518.4:c.*62A>C NP_000509.1:n.*62A>C
NM_000518.5:c.*62A>C MANE Select NP_000509.1:n.*62A>C
Search 100 bp 5'
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