Canonical Allele Identifier: CA124853
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15171
dbSNP Id: rs33936254
gnomAD v2: 11-5248184-T-G
gnomAD v3: 11-5226954-T-G
gnomAD v4: 11-5226954-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226954T>G , CM000673.2:g.5226954T>G GRCh38
NC_000011.9:g.5248184T>G , CM000673.1:g.5248184T>G GRCh37
NC_000011.8:g.5204760T>G NCBI36
NG_000007.3:g.70662A>C
NG_059281.1:g.5118A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.68A>C ENSP00000494175.1:p.Glu23Ala
ENST00000335295.4:c.68A>C MANE Select ENSP00000333994.3:p.Glu23Ala
ENST00000380315.2:c.68A>C ENSP00000369671.2:p.Glu23Ala
ENST00000485743.1:n.119A>C
ENST00000633227.1:c.68A>C ENSP00000488004.1:p.Glu23Ala
NM_000518.4:c.68A>C NP_000509.1:p.Glu23Ala
NM_000518.5:c.68A>C MANE Select NP_000509.1:p.Glu23Ala