Canonical Allele Identifier: CA1949584051

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5249798G= , CM000673.2:g.5249798G= GRCh38
NC_000011.9:g.5271028G= , CM000673.1:g.5271028G= GRCh37
NC_000011.8:g.5227604G= NCBI36
NG_000007.3:g.47818C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000330597.5:c.7C= (HBG1) MANE Select ENSP00000327431.4:p.His3=
ENST00000642908.1:c.316-1311C= ENSP00000495346.1:n.316-1311C=
ENST00000647543.1:c.379-1311C= ENSP00000496470.1:n.379-1311C=
ENST00000648735.1:n.58C= (HBG1)
ENST00000330597.3:c.7C= (HBG1) ENSP00000327431.3:p.His3=
ENST00000620888.4:c.316-1311C= (HBG2) ENSP00000479637.1:n.316-1311C=
ENST00000623781.1:c.351G= ENSP00000485381.1:p.Met117=
ENST00000632727.1:c.7C= (HBG1) ENSP00000488759.1:p.His3=
NM_000559.2:c.7C= (HBG1) NP_000550.2:p.His3=
NM_000559.3:c.7C= (HBG1) MANE Select NP_000550.2:p.His3=