Canonical Allele Identifier: CA472638314
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1999798
ClinVar RCV Id: RCV002819866
MyVariant Identifiers: chr11:g.5246864A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225634A>G , CM000673.2:g.5225634A>G GRCh38
NC_000011.9:g.5246864A>G , CM000673.1:g.5246864A>G GRCh37
NC_000011.8:g.5203440A>G NCBI36
NG_000007.3:g.71982T>C
NG_059281.1:g.6438T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.408T>C ENSP00000494175.1:p.Ala136=
ENST00000335295.4:c.408T>C MANE Select ENSP00000333994.3:p.Ala136=
ENST00000633227.1:c.*224T>C ENSP00000488004.1:n.*224T>C
NM_000518.4:c.408T>C NP_000509.1:p.Ala136=
NM_000518.5:c.408T>C MANE Select NP_000509.1:p.Ala136=
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Search 100 bp 3'