Canonical Allele Identifier: CA2499221073
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1151547
ClinVar RCV Id: RCV001492504
dbSNP Id: rs2133587629
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226536A>T , CM000673.2:g.5226536A>T GRCh38
NC_000011.9:g.5247766A>T , CM000673.1:g.5247766A>T GRCh37
NC_000011.8:g.5204342A>T NCBI36
NG_000007.3:g.71080T>A
NG_059281.1:g.5536T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.315+41T>A ENSP00000494175.1:n.315+41T>A
ENST00000335295.4:c.315+41T>A MANE Select ENSP00000333994.3:n.315+41T>A
ENST00000475226.1:n.247+41T>A
ENST00000485743.1:n.407T>A
ENST00000633227.1:c.*131+41T>A ENSP00000488004.1:n.*131+41T>A
NM_000518.4:c.315+41T>A NP_000509.1:n.315+41T>A
NM_000518.5:c.315+41T>A MANE Select NP_000509.1:n.315+41T>A
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