Canonical Allele Identifier: CA125376
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15513
dbSNP Id: rs36015961

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225698A>G , CM000673.2:g.5225698A>G GRCh38
NC_000011.9:g.5246928A>G , CM000673.1:g.5246928A>G GRCh37
NC_000011.8:g.5203504A>G NCBI36
NG_000007.3:g.71918T>C
NG_059281.1:g.6374T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.344T>C ENSP00000494175.1:p.Leu115Pro
ENST00000335295.4:c.344T>C MANE Select ENSP00000333994.3:p.Leu115Pro
ENST00000475226.1:n.276T>C
ENST00000633227.1:c.*160T>C ENSP00000488004.1:n.*160T>C
NM_000518.4:c.344T>C NP_000509.1:p.Leu115Pro
NM_000518.5:c.344T>C MANE Select NP_000509.1:p.Leu115Pro