Canonical Allele Identifier: CA1949570295
Gene: HBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226936A= , CM000673.2:g.5226936A= GRCh38
NC_000011.9:g.5248166A= , CM000673.1:g.5248166A= GRCh37
NC_000011.8:g.5204742A= NCBI36
NG_000007.3:g.70680T=
NG_059281.1:g.5136T=

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.86T= ENSP00000494175.1:p.Leu29=
ENST00000335295.4:c.86T= MANE Select ENSP00000333994.3:p.Leu29=
ENST00000380315.2:c.86T= ENSP00000369671.2:p.Leu29=
ENST00000485743.1:n.137T=
ENST00000633227.1:c.76+10T= ENSP00000488004.1:n.76+10T=
NM_000518.4:c.86T= NP_000509.1:p.Leu29=
NM_000518.5:c.86T= MANE Select NP_000509.1:p.Leu29=