Canonical Allele Identifier: CA379275010
Gene: HBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227009T>C , CM000673.2:g.5227009T>C GRCh38
NC_000011.9:g.5248239T>C , CM000673.1:g.5248239T>C GRCh37
NC_000011.8:g.5204815T>C NCBI36
NG_000007.3:g.70607A>G
NG_059281.1:g.5063A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.13A>G ENSP00000494175.1:p.Thr5Ala
ENST00000335295.4:c.13A>G MANE Select ENSP00000333994.3:p.Thr5Ala
ENST00000380315.2:c.13A>G ENSP00000369671.2:p.Thr5Ala
ENST00000485743.1:n.64A>G
ENST00000633227.1:c.13A>G ENSP00000488004.1:p.Thr5Ala
NM_000518.4:c.13A>G NP_000509.1:p.Thr5Ala
NM_000518.5:c.13A>G MANE Select NP_000509.1:p.Thr5Ala