Canonical Allele Identifier: CA394732772
Community Standard Title: NM_000246.4(CIITA):c.2250G>A (p.Trp750Ter)
Gene: CIITA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.10907742G>A , CM000678.2:g.10907742G>A GRCh38
NC_000016.9:g.11001599G>A , CM000678.1:g.11001599G>A GRCh37
NC_000016.8:g.10909100G>A NCBI36
NG_009628.1:g.35545G>A , LRG_49:g.35545G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000246.4:c.2250G>A MANE Select NP_000237.2:p.Trp750Ter
ENST00000324288.14:c.2250G>A MANE Select ENSP00000316328.8:p.Trp750Ter
NM_000246.3:c.2250G>A , LRG_49t1:c.2250G>A NP_000237.2:p.Trp750Ter
NM_001286402.1:c.2253G>A NP_001273331.1:p.Trp751Ter
NM_001286403.1:c.860-1241G>A NP_001273332.1:n.860-1241G>A
NM_001286403.2:c.860-1241G>A NP_001273332.1:n.860-1241G>A
NM_001379330.1:c.2106G>A NP_001366259.1:p.Trp702Ter
NM_001379331.1:c.2103G>A NP_001366260.1:p.Trp701Ter
NM_001379332.1:c.2253G>A NP_001366261.1:p.Trp751Ter
NM_001379333.1:c.2250G>A NP_001366262.1:p.Trp750Ter
NM_001379334.1:c.2181G>A NP_001366263.1:p.Trp727Ter
NR_104444.1:n.1140-2446G>A
NR_104444.2:n.1136-2446G>A
ENST00000324288.12:c.2250G>A ENSP00000316328.8:p.Trp750Ter
ENST00000381835.9:c.860-1241G>A ENSP00000371257.5:n.860-1241G>A
ENST00000537380.1:n.1007-2446G>A
ENST00000570546.5:n.2371G>A
ENST00000573309.5:n.2221G>A
ENST00000611587.4:c.2106G>A ENSP00000483487.1:p.Trp702Ter
ENST00000618207.4:c.1007-2446G>A ENSP00000484761.1:n.1007-2446G>A
ENST00000618327.4:c.2253G>A ENSP00000485010.1:p.Trp751Ter
ENST00000695879.1:n.2144G>A
XM_006720880.2:c.2547G>A XP_006720943.2:p.Trp849Ter
XM_006720880.3:c.2547G>A XP_006720943.2:p.Trp849Ter
XM_011522484.1:c.2547G>A XP_011520786.1:p.Trp849Ter
XM_011522484.3:c.2547G>A XP_011520786.1:p.Trp849Ter
XM_011522485.1:c.2547G>A XP_011520787.1:p.Trp849Ter
XM_011522485.2:c.2547G>A XP_011520787.1:p.Trp849Ter
XM_011522486.1:c.2547G>A XP_011520788.1:p.Trp849Ter
XM_011522486.2:c.2547G>A XP_011520788.1:p.Trp849Ter
XM_011522487.1:c.2301G>A XP_011520789.1:p.Trp767Ter
XM_011522487.2:c.2301G>A XP_011520789.1:p.Trp767Ter
XM_011522488.1:c.2298G>A XP_011520790.1:p.Trp766Ter
XM_011522488.2:c.2298G>A XP_011520790.1:p.Trp766Ter
XM_011522489.1:c.2298G>A XP_011520791.1:p.Trp766Ter
XM_011522489.2:c.2298G>A XP_011520791.1:p.Trp766Ter
XM_011522490.1:c.2295G>A XP_011520792.1:p.Trp765Ter
XM_011522490.2:c.2295G>A XP_011520792.1:p.Trp765Ter
XM_011522491.1:c.2547G>A XP_011520793.1:p.Trp849Ter
XM_011522491.2:c.2547G>A XP_011520793.1:p.Trp849Ter
XM_011522492.1:c.2253G>A XP_011520794.1:p.Trp751Ter
XM_011522492.2:c.2253G>A XP_011520794.1:p.Trp751Ter
XM_011522493.1:c.2250G>A XP_011520795.1:p.Trp750Ter
XM_011522493.2:c.2250G>A XP_011520795.1:p.Trp750Ter
XM_011522494.1:c.2181G>A XP_011520796.1:p.Trp727Ter
XM_011522494.2:c.2181G>A XP_011520796.1:p.Trp727Ter
XM_011522495.1:c.2106G>A XP_011520797.1:p.Trp702Ter
XM_011522495.2:c.2106G>A XP_011520797.1:p.Trp702Ter
XM_011522496.1:c.2103G>A XP_011520798.1:p.Trp701Ter
XM_011522496.2:c.2103G>A XP_011520798.1:p.Trp701Ter
XM_024450280.1:c.2493G>A XP_024306048.1:p.Trp831Ter
XM_024450281.1:c.2346G>A XP_024306049.1:p.Trp782Ter
XR_001751904.1:n.2566G>A
XR_932841.1:n.2562G>A
XR_932841.3:n.2564G>A
XR_932842.1:n.2562G>A
XR_932842.2:n.2564G>A
XR_932843.1:n.2562G>A
XR_932846.1:n.2562G>A
XR_932846.3:n.2566G>A
XR_932847.1:n.2562G>A
XR_932847.3:n.2566G>A
XR_932848.1:n.1010-1241G>A