Canonical Allele Identifier: CA125020
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15261
ClinVar RCV Id: RCV000016485
dbSNP Id: rs33983205
MyVariant Identifiers: chr11:g.5248244T>G (hg19) chr11:g.5227014T>G (hg38)
PubMed: PMID:2599888 PMID:3455755 PMID:6548977
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227014T>G , CM000673.2:g.5227014T>G GRCh38
NC_000011.9:g.5248244T>G , CM000673.1:g.5248244T>G GRCh37
NC_000011.8:g.5204820T>G NCBI36
NG_000007.3:g.70602A>C
NG_059281.1:g.5058A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.8A>C ENSP00000494175.1:p.His3Pro
ENST00000335295.4:c.8A>C MANE Select ENSP00000333994.3:p.His3Pro
ENST00000380315.2:c.8A>C ENSP00000369671.2:p.His3Pro
ENST00000485743.1:n.59A>C
ENST00000633227.1:c.8A>C ENSP00000488004.1:p.His3Pro
NM_000518.4:c.8A>C NP_000509.1:p.His3Pro
NM_000518.5:c.8A>C MANE Select NP_000509.1:p.His3Pro
Search 100 bp 5'
Search 100 bp 3'