Canonical Allele Identifier: CA677551481
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs528009939
gnomAD v3: 11-5225469-A-G
gnomAD v4: 11-5225469-A-G
MyVariant Identifiers: chr11:g.5246699A>G (hg19) chr11:g.5225469A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225469A>G , CM000673.2:g.5225469A>G GRCh38
NC_000011.9:g.5246699A>G , CM000673.1:g.5246699A>G GRCh37
NC_000011.8:g.5203275A>G NCBI36
NG_000007.3:g.72147T>C
NG_059281.1:g.6603T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.*129T>C ENSP00000494175.1:n.*129T>C
ENST00000335295.4:c.*129T>C MANE Select ENSP00000333994.3:n.*129T>C
ENST00000633227.1:c.*389T>C ENSP00000488004.1:n.*389T>C
NM_000518.4:c.*129T>C NP_000509.1:n.*129T>C
NM_000518.5:c.*129T>C MANE Select NP_000509.1:n.*129T>C
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