Canonical Allele Identifier: CA037802
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 478852
ClinVar RCV Id: RCV001811076
dbSNP Id: rs33948578
MyVariant Identifiers: chr11:g.5248024A>T (hg19) chr11:g.5226794A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226794A>T , CM000673.2:g.5226794A>T GRCh38
NC_000011.9:g.5248024A>T , CM000673.1:g.5248024A>T GRCh37
NC_000011.8:g.5204600A>T NCBI36
NG_000007.3:g.70822T>A
NG_059281.1:g.5278T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.98T>A ENSP00000494175.1:p.Leu33Gln
ENST00000335295.4:c.98T>A MANE Select ENSP00000333994.3:p.Leu33Gln
ENST00000380315.2:c.98T>A ENSP00000369671.2:p.Leu33Gln
ENST00000475226.1:n.30T>A
ENST00000485743.1:n.149T>A
ENST00000633227.1:c.82T>A ENSP00000488004.1:p.Trp28Arg
NM_000518.4:c.98T>A NP_000509.1:p.Leu33Gln
NM_000518.5:c.98T>A MANE Select NP_000509.1:p.Leu33Gln
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