Canonical Allele Identifier: CA379280109

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5249518G>A , CM000673.2:g.5249518G>A GRCh38
NC_000011.9:g.5270748G>A , CM000673.1:g.5270748G>A GRCh37
NC_000011.8:g.5227324G>A NCBI36
NG_000007.3:g.48098C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330597.5:c.165C>T (HBG1) MANE Select ENSP00000327431.4:p.Ile55=
ENST00000642908.1:c.316-1031C>T ENSP00000495346.1:n.316-1031C>T
ENST00000647543.1:c.379-1031C>T ENSP00000496470.1:n.379-1031C>T
ENST00000648735.1:n.216C>T (HBG1)
ENST00000330597.3:c.165C>T (HBG1) ENSP00000327431.3:p.Ile55=
ENST00000620888.4:c.316-1031C>T (HBG2) ENSP00000479637.1:n.316-1031C>T
ENST00000623781.1:c.190G>A ENSP00000485381.1:p.Asp64Asn
ENST00000632727.1:c.*34C>T (HBG1) ENSP00000488759.1:n.*34C>T
NM_000559.2:c.165C>T (HBG1) NP_000550.2:p.Ile55=
NM_000559.3:c.165C>T (HBG1) MANE Select NP_000550.2:p.Ile55=