Canonical Allele Identifier: CA1949584001

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5249775A= , CM000673.2:g.5249775A= GRCh38
NC_000011.9:g.5271005A= , CM000673.1:g.5271005A= GRCh37
NC_000011.8:g.5227581A= NCBI36
NG_000007.3:g.47841T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000330597.5:c.30T= (HBG1) MANE Select ENSP00000327431.4:p.Ala10=
ENST00000642908.1:c.316-1288T= ENSP00000495346.1:n.316-1288T=
ENST00000647543.1:c.379-1288T= ENSP00000496470.1:n.379-1288T=
ENST00000648735.1:n.81T= (HBG1)
ENST00000330597.3:c.30T= (HBG1) ENSP00000327431.3:p.Ala10=
ENST00000620888.4:c.316-1288T= (HBG2) ENSP00000479637.1:n.316-1288T=
ENST00000623781.1:c.328A= ENSP00000485381.1:p.Ser110=
ENST00000632727.1:c.30T= (HBG1) ENSP00000488759.1:p.Ala10=
NM_000559.2:c.30T= (HBG1) NP_000550.2:p.Ala10=
NM_000559.3:c.30T= (HBG1) MANE Select NP_000550.2:p.Ala10=