Canonical Allele Identifier: CA394728410
Gene: CIITA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.10902152A>T , CM000678.2:g.10902152A>T GRCh38
NC_000016.9:g.10996009A>T , CM000678.1:g.10996009A>T GRCh37
NC_000016.8:g.10903510A>T NCBI36
NG_009628.1:g.29955A>T , LRG_49:g.29955A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695879.1:n.621A>T
ENST00000324288.14:c.596A>T MANE Select ENSP00000316328.8:p.Gln199Leu
ENST00000324288.12:c.596A>T ENSP00000316328.8:p.Gln199Leu
ENST00000381835.9:c.482-506A>T ENSP00000371257.5:n.482-506A>T
ENST00000537380.1:n.596A>T
ENST00000570546.5:n.717A>T
ENST00000571186.5:c.*317A>T ENSP00000459829.1:n.*317A>T
ENST00000573309.5:n.600-506A>T
ENST00000576601.1:c.524A>T ENSP00000459608.1:p.Gln175Leu
ENST00000611587.4:c.485-506A>T ENSP00000483487.1:n.485-506A>T
ENST00000618207.4:c.596A>T ENSP00000484761.1:p.Gln199Leu
ENST00000618327.4:c.599A>T ENSP00000485010.1:p.Gln200Leu
NM_000246.3:c.596A>T , LRG_49t1:c.596A>T NP_000237.2:p.Gln199Leu
NM_001286402.1:c.599A>T NP_001273331.1:p.Gln200Leu
NM_001286403.1:c.482-506A>T NP_001273332.1:n.482-506A>T
NR_104444.1:n.729A>T
XM_006720880.2:c.893A>T XP_006720943.2:p.Gln298Leu
XM_011522484.1:c.893A>T XP_011520786.1:p.Gln298Leu
XM_011522485.1:c.893A>T XP_011520787.1:p.Gln298Leu
XM_011522486.1:c.893A>T XP_011520788.1:p.Gln298Leu
XM_011522487.1:c.680-506A>T XP_011520789.1:n.680-506A>T
XM_011522488.1:c.644A>T XP_011520790.1:p.Gln215Leu
XM_011522489.1:c.677-506A>T XP_011520791.1:n.677-506A>T
XM_011522490.1:c.641A>T XP_011520792.1:p.Gln214Leu
XM_011522491.1:c.893A>T XP_011520793.1:p.Gln298Leu
XM_011522492.1:c.599A>T XP_011520794.1:p.Gln200Leu
XM_011522493.1:c.596A>T XP_011520795.1:p.Gln199Leu
XM_011522494.1:c.527A>T XP_011520796.1:p.Gln176Leu
XM_011522495.1:c.485-506A>T XP_011520797.1:n.485-506A>T
XM_011522496.1:c.482-506A>T XP_011520798.1:n.482-506A>T
XR_932841.1:n.908A>T
XR_932842.1:n.908A>T
XR_932843.1:n.908A>T
XR_932846.1:n.908A>T
XR_932847.1:n.908A>T
XR_932848.1:n.632-506A>T
XM_006720880.3:c.893A>T XP_006720943.2:p.Gln298Leu
XM_011522484.3:c.893A>T XP_011520786.1:p.Gln298Leu
XM_011522485.2:c.893A>T XP_011520787.1:p.Gln298Leu
XM_011522486.2:c.893A>T XP_011520788.1:p.Gln298Leu
XM_011522487.2:c.680-506A>T XP_011520789.1:n.680-506A>T
XM_011522488.2:c.644A>T XP_011520790.1:p.Gln215Leu
XM_011522489.2:c.677-506A>T XP_011520791.1:n.677-506A>T
XM_011522490.2:c.641A>T XP_011520792.1:p.Gln214Leu
XM_011522491.2:c.893A>T XP_011520793.1:p.Gln298Leu
XM_011522492.2:c.599A>T XP_011520794.1:p.Gln200Leu
XM_011522493.2:c.596A>T XP_011520795.1:p.Gln199Leu
XM_011522494.2:c.527A>T XP_011520796.1:p.Gln176Leu
XM_011522495.2:c.485-506A>T XP_011520797.1:n.485-506A>T
XM_011522496.2:c.482-506A>T XP_011520798.1:n.482-506A>T
XM_024450280.1:c.839A>T XP_024306048.1:p.Gln280Leu
XM_024450281.1:c.725-506A>T XP_024306049.1:n.725-506A>T
XR_001751904.1:n.912A>T
XR_932841.3:n.910A>T
XR_932842.2:n.910A>T
XR_932846.3:n.912A>T
XR_932847.3:n.912A>T
NM_001286403.2:c.482-506A>T NP_001273332.1:n.482-506A>T
NR_104444.2:n.725A>T
NM_000246.4:c.596A>T MANE Select NP_000237.2:p.Gln199Leu
NM_001379330.1:c.485-506A>T NP_001366259.1:n.485-506A>T
NM_001379331.1:c.482-506A>T NP_001366260.1:n.482-506A>T
NM_001379332.1:c.599A>T NP_001366261.1:p.Gln200Leu
NM_001379333.1:c.596A>T NP_001366262.1:p.Gln199Leu
NM_001379334.1:c.527A>T NP_001366263.1:p.Gln176Leu