Canonical Allele Identifier: CA7899692
Community Standard Title: NM_000246.4(CIITA):c.366A>T (p.Ile122=)
Gene: CIITA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.10898932A>T , CM000678.2:g.10898932A>T GRCh38
NC_000016.9:g.10992789A>T , CM000678.1:g.10992789A>T GRCh37
NC_000016.8:g.10900290A>T NCBI36
NG_009628.1:g.26735A>T , LRG_49:g.26735A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000246.4:c.366A>T MANE Select NP_000237.2:p.Ile122=
ENST00000324288.14:c.366A>T MANE Select ENSP00000316328.8:p.Ile122=
NM_000246.3:c.366A>T , LRG_49t1:c.366A>T NP_000237.2:p.Ile122=
NM_001286402.1:c.369A>T NP_001273331.1:p.Ile123=
NM_001286403.1:c.366A>T NP_001273332.1:p.Ile122=
NM_001286403.2:c.366A>T NP_001273332.1:p.Ile122=
NM_001379330.1:c.369A>T NP_001366259.1:p.Ile123=
NM_001379331.1:c.366A>T NP_001366260.1:p.Ile122=
NM_001379332.1:c.369A>T NP_001366261.1:p.Ile123=
NM_001379333.1:c.366A>T NP_001366262.1:p.Ile122=
NM_001379334.1:c.297A>T NP_001366263.1:p.Ile99=
NR_104444.1:n.499A>T
NR_104444.2:n.495A>T
ENST00000324288.12:c.366A>T ENSP00000316328.8:p.Ile122=
ENST00000381835.9:c.366A>T ENSP00000371257.5:p.Ile122=
ENST00000537380.1:n.366A>T
ENST00000570546.5:n.487A>T
ENST00000571186.5:c.366A>T ENSP00000459829.1:p.Ile122=
ENST00000573309.5:n.484A>T
ENST00000576601.1:c.294A>T ENSP00000459608.1:p.Ile98=
ENST00000611587.4:c.369A>T ENSP00000483487.1:p.Ile123=
ENST00000618207.4:c.366A>T ENSP00000484761.1:p.Ile122=
ENST00000618327.4:c.369A>T ENSP00000485010.1:p.Ile123=
ENST00000636238.1:c.297A>T ENSP00000490205.1:p.Ile99=
ENST00000637439.1:c.600A>T ENSP00000489907.1:p.Ile200=
ENST00000695878.1:n.714A>T
ENST00000695879.1:n.391A>T
XM_006720880.2:c.663A>T XP_006720943.2:p.Ile221=
XM_006720880.3:c.663A>T XP_006720943.2:p.Ile221=
XM_011522484.1:c.663A>T XP_011520786.1:p.Ile221=
XM_011522484.3:c.663A>T XP_011520786.1:p.Ile221=
XM_011522485.1:c.663A>T XP_011520787.1:p.Ile221=
XM_011522485.2:c.663A>T XP_011520787.1:p.Ile221=
XM_011522486.1:c.663A>T XP_011520788.1:p.Ile221=
XM_011522486.2:c.663A>T XP_011520788.1:p.Ile221=
XM_011522487.1:c.564A>T XP_011520789.1:p.Ile188=
XM_011522487.2:c.564A>T XP_011520789.1:p.Ile188=
XM_011522488.1:c.414A>T XP_011520790.1:p.Ile138=
XM_011522488.2:c.414A>T XP_011520790.1:p.Ile138=
XM_011522489.1:c.561A>T XP_011520791.1:p.Ile187=
XM_011522489.2:c.561A>T XP_011520791.1:p.Ile187=
XM_011522490.1:c.411A>T XP_011520792.1:p.Ile137=
XM_011522490.2:c.411A>T XP_011520792.1:p.Ile137=
XM_011522491.1:c.663A>T XP_011520793.1:p.Ile221=
XM_011522491.2:c.663A>T XP_011520793.1:p.Ile221=
XM_011522492.1:c.369A>T XP_011520794.1:p.Ile123=
XM_011522492.2:c.369A>T XP_011520794.1:p.Ile123=
XM_011522493.1:c.366A>T XP_011520795.1:p.Ile122=
XM_011522493.2:c.366A>T XP_011520795.1:p.Ile122=
XM_011522494.1:c.297A>T XP_011520796.1:p.Ile99=
XM_011522494.2:c.297A>T XP_011520796.1:p.Ile99=
XM_011522495.1:c.369A>T XP_011520797.1:p.Ile123=
XM_011522495.2:c.369A>T XP_011520797.1:p.Ile123=
XM_011522496.1:c.366A>T XP_011520798.1:p.Ile122=
XM_011522496.2:c.366A>T XP_011520798.1:p.Ile122=
XM_024450280.1:c.609A>T XP_024306048.1:p.Ile203=
XM_024450281.1:c.609A>T XP_024306049.1:p.Ile203=
XR_001751904.1:n.682A>T
XR_002957858.1:n.385-27T>A
XR_002957859.1:n.385-27T>A
XR_932841.1:n.678A>T
XR_932841.3:n.680A>T
XR_932842.1:n.678A>T
XR_932842.2:n.680A>T
XR_932843.1:n.678A>T
XR_932846.1:n.678A>T
XR_932846.3:n.682A>T
XR_932847.1:n.678A>T
XR_932847.3:n.682A>T
XR_932848.1:n.516A>T