Canonical Allele Identifier: CA1949563943
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs1847520827
gnomAD v4: 11-5225570-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225570A>C , CM000673.2:g.5225570A>C GRCh38
NC_000011.9:g.5246800A>C , CM000673.1:g.5246800A>C GRCh37
NC_000011.8:g.5203376A>C NCBI36
NG_000007.3:g.72046T>G
NG_059281.1:g.6502T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.*28T>G ENSP00000494175.1:n.*28T>G
ENST00000335295.4:c.*28T>G MANE Select ENSP00000333994.3:n.*28T>G
ENST00000633227.1:c.*288T>G ENSP00000488004.1:n.*288T>G
NM_000518.4:c.*28T>G NP_000509.1:n.*28T>G
NM_000518.5:c.*28T>G MANE Select NP_000509.1:n.*28T>G
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