Canonical Allele Identifier: CA125245
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15395
dbSNP Id: rs33954264

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225602T>G , CM000673.2:g.5225602T>G GRCh38
NC_000011.9:g.5246832T>G , CM000673.1:g.5246832T>G GRCh37
NC_000011.8:g.5203408T>G NCBI36
NG_000007.3:g.72014A>C
NG_059281.1:g.6470A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.440A>C ENSP00000494175.1:p.His147Pro
ENST00000335295.4:c.440A>C MANE Select ENSP00000333994.3:p.His147Pro
ENST00000633227.1:c.*256A>C ENSP00000488004.1:n.*256A>C
NM_000518.4:c.440A>C NP_000509.1:p.His147Pro
NM_000518.5:c.440A>C MANE Select NP_000509.1:p.His147Pro