Canonical Allele Identifier: CA217112430
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs33937535
MyVariant Identifiers: chr11:g.5246880T>C (hg19) chr11:g.5225650T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225650T>C , CM000673.2:g.5225650T>C GRCh38
NC_000011.9:g.5246880T>C , CM000673.1:g.5246880T>C GRCh37
NC_000011.8:g.5203456T>C NCBI36
NG_000007.3:g.71966A>G
NG_059281.1:g.6422A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.392A>G ENSP00000494175.1:p.Tyr131Cys
ENST00000335295.4:c.392A>G MANE Select ENSP00000333994.3:p.Tyr131Cys
ENST00000633227.1:c.*208A>G ENSP00000488004.1:n.*208A>G
NM_000518.4:c.392A>G NP_000509.1:p.Tyr131Cys
NM_000518.5:c.392A>G MANE Select NP_000509.1:p.Tyr131Cys
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