Canonical Allele Identifier: CA125410
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15534
ClinVar RCV Id: RCV000016799
dbSNP Id: rs33987957

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225677T>G , CM000673.2:g.5225677T>G GRCh38
NC_000011.9:g.5246907T>G , CM000673.1:g.5246907T>G GRCh37
NC_000011.8:g.5203483T>G NCBI36
NG_000007.3:g.71939A>C
NG_059281.1:g.6395A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.365A>C ENSP00000494175.1:p.Glu122Ala
ENST00000335295.4:c.365A>C MANE Select ENSP00000333994.3:p.Glu122Ala
ENST00000475226.1:n.297A>C
ENST00000633227.1:c.*181A>C ENSP00000488004.1:n.*181A>C
NM_000518.4:c.365A>C NP_000509.1:p.Glu122Ala
NM_000518.5:c.365A>C MANE Select NP_000509.1:p.Glu122Ala