Canonical Allele Identifier: CA217112750
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 869280
ClinVar RCV Id: RCV001078327
dbSNP Id: rs33930977
MyVariant Identifiers: chr11:g.5246933A>T (hg19) chr11:g.5225703A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225703A>T , CM000673.2:g.5225703A>T GRCh38
NC_000011.9:g.5246933A>T , CM000673.1:g.5246933A>T GRCh37
NC_000011.8:g.5203509A>T NCBI36
NG_000007.3:g.71913T>A
NG_059281.1:g.6369T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.339T>A ENSP00000494175.1:p.Cys113Ter
ENST00000335295.4:c.339T>A MANE Select ENSP00000333994.3:p.Cys113Ter
ENST00000475226.1:n.271T>A
ENST00000633227.1:c.*155T>A ENSP00000488004.1:n.*155T>A
NM_000518.4:c.339T>A NP_000509.1:p.Cys113Ter
NM_000518.5:c.339T>A MANE Select NP_000509.1:p.Cys113Ter
Search 100 bp 5'
Search 100 bp 3'