Canonical Allele Identifier: CA125257
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15401
dbSNP Id: rs33986703
gnomAD v2: 11-5248200-T-A
gnomAD v3: 11-5226970-T-A
gnomAD v4: 11-5226970-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226970T>A , CM000673.2:g.5226970T>A GRCh38
NC_000011.9:g.5248200T>A , CM000673.1:g.5248200T>A GRCh37
NC_000011.8:g.5204776T>A NCBI36
NG_000007.3:g.70646A>T
NG_059281.1:g.5102A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.52A>T ENSP00000494175.1:p.Lys18Ter
ENST00000335295.4:c.52A>T MANE Select ENSP00000333994.3:p.Lys18Ter
ENST00000380315.2:c.52A>T ENSP00000369671.2:p.Lys18Ter
ENST00000485743.1:n.103A>T
ENST00000633227.1:c.52A>T ENSP00000488004.1:p.Lys18Ter
NM_000518.4:c.52A>T NP_000509.1:p.Lys18Ter
NM_000518.5:c.52A>T MANE Select NP_000509.1:p.Lys18Ter