Canonical Allele Identifier: CA217114568
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 439782
ClinVar RCV Id: RCV000506586 RCV001078348 RCV003558431
dbSNP Id: rs33991059
MyVariant Identifiers: chr11:g.5248009C>T (hg19) chr11:g.5226779C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226779C>T , CM000673.2:g.5226779C>T GRCh38
NC_000011.9:g.5248009C>T , CM000673.1:g.5248009C>T GRCh37
NC_000011.8:g.5204585C>T NCBI36
NG_000007.3:g.70837G>A
NG_059281.1:g.5293G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.113G>A ENSP00000494175.1:p.Trp38Ter
ENST00000335295.4:c.113G>A MANE Select ENSP00000333994.3:p.Trp38Ter
ENST00000380315.2:c.113G>A ENSP00000369671.2:p.Trp38Ter
ENST00000475226.1:n.45G>A
ENST00000485743.1:n.164G>A
ENST00000633227.1:c.97G>A ENSP00000488004.1:p.Gly33Arg
NM_000518.4:c.113G>A NP_000509.1:p.Trp38Ter
NM_000518.5:c.113G>A MANE Select NP_000509.1:p.Trp38Ter
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