Canonical Allele Identifier: CA1949583934

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5249737T= , CM000673.2:g.5249737T= GRCh38
NC_000011.9:g.5270967T= , CM000673.1:g.5270967T= GRCh37
NC_000011.8:g.5227543T= NCBI36
NG_000007.3:g.47879A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000330597.5:c.68A= (HBG1) MANE Select ENSP00000327431.4:p.Asp23=
ENST00000642908.1:c.316-1250A= ENSP00000495346.1:n.316-1250A=
ENST00000647543.1:c.379-1250A= ENSP00000496470.1:n.379-1250A=
ENST00000648735.1:n.119A= (HBG1)
ENST00000330597.3:c.68A= (HBG1) ENSP00000327431.3:p.Asp23=
ENST00000620888.4:c.316-1250A= (HBG2) ENSP00000479637.1:n.316-1250A=
ENST00000623781.1:c.290T= ENSP00000485381.1:p.Ile97=
ENST00000632727.1:c.54+14A= (HBG1) ENSP00000488759.1:n.54+14A=
NM_000559.2:c.68A= (HBG1) NP_000550.2:p.Asp23=
NM_000559.3:c.68A= (HBG1) MANE Select NP_000550.2:p.Asp23=