Canonical Allele Identifier: CA217112211
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 633256
ClinVar RCV Id: RCV000781441 RCV001839458
dbSNP Id: rs33949869
MyVariant Identifiers: chr11:g.5246836A>T (hg19) chr11:g.5225606A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225606A>T , CM000673.2:g.5225606A>T GRCh38
NC_000011.9:g.5246836A>T , CM000673.1:g.5246836A>T GRCh37
NC_000011.8:g.5203412A>T NCBI36
NG_000007.3:g.72010T>A
NG_059281.1:g.6466T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.436T>A ENSP00000494175.1:p.Tyr146Asn
ENST00000335295.4:c.436T>A MANE Select ENSP00000333994.3:p.Tyr146Asn
ENST00000633227.1:c.*252T>A ENSP00000488004.1:n.*252T>A
NM_000518.4:c.436T>A NP_000509.1:p.Tyr146Asn
NM_000518.5:c.436T>A MANE Select NP_000509.1:p.Tyr146Asn
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