Canonical Allele Identifier: CA1949583885

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5249696T= , CM000673.2:g.5249696T= GRCh38
NC_000011.9:g.5270926T= , CM000673.1:g.5270926T= GRCh37
NC_000011.8:g.5227502T= NCBI36
NG_000007.3:g.47920A=

Transcript Alleles

HGVS Amino-acid change
ENST00000330597.5:c.92+17A= (HBG1) MANE Select ENSP00000327431.4:n.92+17A=
ENST00000642908.1:c.316-1209A= ENSP00000495346.1:n.316-1209A=
ENST00000647543.1:c.379-1209A= ENSP00000496470.1:n.379-1209A=
ENST00000648735.1:n.143+17A= (HBG1)
ENST00000330597.3:c.92+17A= (HBG1) ENSP00000327431.3:n.92+17A=
ENST00000620888.4:c.316-1209A= (HBG2) ENSP00000479637.1:n.316-1209A=
ENST00000623781.1:c.265-16T= ENSP00000485381.1:n.265-16T=
ENST00000632727.1:c.54+55A= (HBG1) ENSP00000488759.1:n.54+55A=
NM_000559.2:c.92+17A= (HBG1) NP_000550.2:n.92+17A=
NM_000559.3:c.92+17A= (HBG1) MANE Select NP_000550.2:n.92+17A=