Canonical Allele Identifier: CA125223
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15383
dbSNP Id: rs35351128

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226624T>G , CM000673.2:g.5226624T>G GRCh38
NC_000011.9:g.5247854T>G , CM000673.1:g.5247854T>G GRCh37
NC_000011.8:g.5204430T>G NCBI36
NG_000007.3:g.70992A>C
NG_059281.1:g.5448A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.268A>C ENSP00000494175.1:p.Ser90Arg
ENST00000335295.4:c.268A>C MANE Select ENSP00000333994.3:p.Ser90Arg
ENST00000380315.2:c.268A>C ENSP00000369671.2:p.Ser90Arg
ENST00000475226.1:n.200A>C
ENST00000485743.1:n.319A>C
ENST00000633227.1:c.*84A>C ENSP00000488004.1:n.*84A>C
NM_000518.4:c.268A>C NP_000509.1:p.Ser90Arg
NM_000518.5:c.268A>C MANE Select NP_000509.1:p.Ser90Arg