Canonical Allele Identifier: CA125134
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15331
ClinVar RCV Id: RCV000016571
dbSNP Id: rs33994623
MyVariant Identifiers: chr11:g.5248010A>T (hg19) chr11:g.5226780A>T (hg38)
PubMed: PMID:913596 PMID:1567857 PMID:7068435
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226780A>T , CM000673.2:g.5226780A>T GRCh38
NC_000011.9:g.5248010A>T , CM000673.1:g.5248010A>T GRCh37
NC_000011.8:g.5204586A>T NCBI36
NG_000007.3:g.70836T>A
NG_059281.1:g.5292T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.112T>A ENSP00000494175.1:p.Trp38Arg
ENST00000335295.4:c.112T>A MANE Select ENSP00000333994.3:p.Trp38Arg
ENST00000380315.2:c.112T>A ENSP00000369671.2:p.Trp38Arg
ENST00000475226.1:n.44T>A
ENST00000485743.1:n.163T>A
ENST00000633227.1:c.96T>A ENSP00000488004.1:p.Leu32=
NM_000518.4:c.112T>A NP_000509.1:p.Trp38Arg
NM_000518.5:c.112T>A MANE Select NP_000509.1:p.Trp38Arg
Search 100 bp 5'
Search 100 bp 3'