Canonical Allele Identifier: CA125149
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15343
dbSNP Id: rs33940204

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226626A>G , CM000673.2:g.5226626A>G GRCh38
NC_000011.9:g.5247856A>G , CM000673.1:g.5247856A>G GRCh37
NC_000011.8:g.5204432A>G NCBI36
NG_000007.3:g.70990T>C
NG_059281.1:g.5446T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.266T>C ENSP00000494175.1:p.Leu89Pro
ENST00000335295.4:c.266T>C MANE Select ENSP00000333994.3:p.Leu89Pro
ENST00000380315.2:c.266T>C ENSP00000369671.2:p.Leu89Pro
ENST00000475226.1:n.198T>C
ENST00000485743.1:n.317T>C
ENST00000633227.1:c.*82T>C ENSP00000488004.1:n.*82T>C
NM_000518.4:c.266T>C NP_000509.1:p.Leu89Pro
NM_000518.5:c.266T>C MANE Select NP_000509.1:p.Leu89Pro