Canonical Allele Identifier: CA677551474
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs1224765274
MyVariant Identifiers: chr11:g.5246697C>T (hg19) chr11:g.5225467C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225467C>T , CM000673.2:g.5225467C>T GRCh38
NC_000011.9:g.5246697C>T , CM000673.1:g.5246697C>T GRCh37
NC_000011.8:g.5203273C>T NCBI36
NG_000007.3:g.72149G>A
NG_059281.1:g.6605G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.*131G>A ENSP00000494175.1:n.*131G>A
ENST00000335295.4:c.*131G>A MANE Select ENSP00000333994.3:n.*131G>A
ENST00000633227.1:c.*391G>A ENSP00000488004.1:n.*391G>A
NM_000518.4:c.*131G>A NP_000509.1:n.*131G>A
NM_000518.5:c.*131G>A MANE Select NP_000509.1:n.*131G>A
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