Canonical Allele Identifier: CA916083172
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 869260
ClinVar RCV Id: RCV001078301
dbSNP Id: rs1847520793
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225566T>G , CM000673.2:g.5225566T>G GRCh38
NC_000011.9:g.5246796T>G , CM000673.1:g.5246796T>G GRCh37
NC_000011.8:g.5203372T>G NCBI36
NG_000007.3:g.72050A>C
NG_059281.1:g.6506A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.*32A>C ENSP00000494175.1:n.*32A>C
ENST00000335295.4:c.*32A>C MANE Select ENSP00000333994.3:n.*32A>C
ENST00000633227.1:c.*292A>C ENSP00000488004.1:n.*292A>C
NM_000518.4:c.*32A>C NP_000509.1:n.*32A>C
NM_000518.5:c.*32A>C MANE Select NP_000509.1:n.*32A>C
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