Canonical Allele Identifier: CA125357
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15494
ClinVar RCV Id: RCV000016756
dbSNP Id: rs33924775
MyVariant Identifiers: chr11:g.5247845G>T (hg19) chr11:g.5226615G>T (hg38)
PubMed: PMID:1787097 PMID:1951318
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226615G>T , CM000673.2:g.5226615G>T GRCh38
NC_000011.9:g.5247845G>T , CM000673.1:g.5247845G>T GRCh37
NC_000011.8:g.5204421G>T NCBI36
NG_000007.3:g.71001C>A
NG_059281.1:g.5457C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.277C>A ENSP00000494175.1:p.His93Asn
ENST00000335295.4:c.277C>A MANE Select ENSP00000333994.3:p.His93Asn
ENST00000475226.1:n.209C>A
ENST00000485743.1:n.328C>A
ENST00000633227.1:c.*93C>A ENSP00000488004.1:n.*93C>A
NM_000518.4:c.277C>A NP_000509.1:p.His93Asn
NM_000518.5:c.277C>A MANE Select NP_000509.1:p.His93Asn
Search 100 bp 5'
Search 100 bp 3'