Canonical Allele Identifier: CA379666968
Gene: IRAG1 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.10652192T>A , CM000673.2:g.10652192T>A GRCh38
NC_000011.9:g.10673739T>A , CM000673.1:g.10673739T>A GRCh37
NC_000011.8:g.10630315T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000423302.7:c.68-10A>T MANE Select ENSP00000412130.2:n.68-10A>T
ENST00000527509.7:c.-48-18121A>T ENSP00000432067.3:n.-48-18121A>T
ENST00000423302.6:c.68-10A>T ENSP00000412130.2:n.68-10A>T
ENST00000526414.5:c.-89-10A>T ENSP00000435658.1:n.-89-10A>T
ENST00000527509.6:c.-48-18121A>T ENSP00000432067.2:n.-48-18121A>T
ENST00000529068.5:c.426-18121A>T
ENST00000529448.5:c.68-18121A>T ENSP00000434741.1:n.68-18121A>T
ENST00000529547.1:c.-89-10A>T ENSP00000432325.1:n.-89-10A>T
ENST00000531107.5:c.31A>T ENSP00000432436.1:p.Ile11Phe
ENST00000531308.1:c.*235-10A>T ENSP00000432312.1:n.*235-10A>T
ENST00000531786.1:n.270-10A>T
ENST00000532037.5:n.139-10A>T
ENST00000534266.6:c.-838A>T ENSP00000433296.2:n.-838A>T
ENST00000541483.5:c.68-10A>T ENSP00000437784.1:n.68-10A>T
ENST00000547195.5:c.-667-18121A>T ENSP00000448278.2:n.-667-18121A>T
ENST00000558540.5:c.-777-10A>T ENSP00000453013.1:n.-777-10A>T
NM_001098579.2:c.31A>T NP_001092049.2:p.Ile11Phe
NM_001100163.2:c.-48-18121A>T NP_001093633.1:n.-48-18121A>T
NM_001100167.2:c.-777-10A>T NP_001093637.1:n.-777-10A>T
NM_001206880.1:c.68-10A>T NP_001193809.1:n.68-10A>T
NM_001206881.1:c.-667-18121A>T NP_001193810.1:n.-667-18121A>T
NM_130385.3:c.68-10A>T NP_569056.4:n.68-10A>T
NM_001098579.3:c.31A>T NP_001092049.2:p.Ile11Phe
NM_001100163.3:c.-48-18121A>T NP_001093633.1:n.-48-18121A>T
NM_001100167.3:c.-777-10A>T NP_001093637.1:n.-777-10A>T
NM_001206880.2:c.68-10A>T NP_001193809.1:n.68-10A>T
NM_001206881.2:c.-667-18121A>T NP_001193810.1:n.-667-18121A>T
NM_130385.4:c.68-10A>T MANE Select NP_569056.4:n.68-10A>T