Canonical Allele Identifier: CA124906
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15198
dbSNP Id: rs34240441

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225622A>T , CM000673.2:g.5225622A>T GRCh38
NC_000011.9:g.5246852A>T , CM000673.1:g.5246852A>T GRCh37
NC_000011.8:g.5203428A>T NCBI36
NG_000007.3:g.71994T>A
NG_059281.1:g.6450T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.420T>A ENSP00000494175.1:p.Asn140Lys
ENST00000335295.4:c.420T>A MANE Select ENSP00000333994.3:p.Asn140Lys
ENST00000633227.1:c.*236T>A ENSP00000488004.1:n.*236T>A
NM_000518.4:c.420T>A NP_000509.1:p.Asn140Lys
NM_000518.5:c.420T>A MANE Select NP_000509.1:p.Asn140Lys