Canonical Allele Identifier: CA1949570813
Gene: HBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226984G= , CM000673.2:g.5226984G= GRCh38
NC_000011.9:g.5248214G= , CM000673.1:g.5248214G= GRCh37
NC_000011.8:g.5204790G= NCBI36
NG_000007.3:g.70632C=
NG_059281.1:g.5088C=

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.38C= ENSP00000494175.1:p.Thr13=
ENST00000335295.4:c.38C= MANE Select ENSP00000333994.3:p.Thr13=
ENST00000380315.2:c.38C= ENSP00000369671.2:p.Thr13=
ENST00000485743.1:n.89C=
ENST00000633227.1:c.38C= ENSP00000488004.1:p.Thr13=
NM_000518.4:c.38C= NP_000509.1:p.Thr13=
NM_000518.5:c.38C= MANE Select NP_000509.1:p.Thr13=