Canonical Allele Identifier: CA394733681
Community Standard Title: NM_000246.4(CIITA):c.2466G>A (p.Trp822Ter)
Gene: CIITA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.10907958G>A , CM000678.2:g.10907958G>A GRCh38
NC_000016.9:g.11001815G>A , CM000678.1:g.11001815G>A GRCh37
NC_000016.8:g.10909316G>A NCBI36
NG_009628.1:g.35761G>A , LRG_49:g.35761G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000246.4:c.2466G>A MANE Select NP_000237.2:p.Trp822Ter
ENST00000324288.14:c.2466G>A MANE Select ENSP00000316328.8:p.Trp822Ter
NM_000246.3:c.2466G>A , LRG_49t1:c.2466G>A NP_000237.2:p.Trp822Ter
NM_001286402.1:c.2469G>A NP_001273331.1:p.Trp823Ter
NM_001286403.1:c.860-1025G>A NP_001273332.1:n.860-1025G>A
NM_001286403.2:c.860-1025G>A NP_001273332.1:n.860-1025G>A
NM_001379330.1:c.2322G>A NP_001366259.1:p.Trp774Ter
NM_001379331.1:c.2319G>A NP_001366260.1:p.Trp773Ter
NM_001379332.1:c.2469G>A NP_001366261.1:p.Trp823Ter
NM_001379333.1:c.2466G>A NP_001366262.1:p.Trp822Ter
NM_001379334.1:c.2397G>A NP_001366263.1:p.Trp799Ter
NR_104444.1:n.1140-2230G>A
NR_104444.2:n.1136-2230G>A
ENST00000324288.12:c.2466G>A ENSP00000316328.8:p.Trp822Ter
ENST00000381835.9:c.860-1025G>A ENSP00000371257.5:n.860-1025G>A
ENST00000537380.1:n.1007-2230G>A
ENST00000570546.5:n.2587G>A
ENST00000573309.5:n.2437G>A
ENST00000611587.4:c.2322G>A ENSP00000483487.1:p.Trp774Ter
ENST00000618207.4:c.1007-2230G>A ENSP00000484761.1:n.1007-2230G>A
ENST00000618327.4:c.2469G>A ENSP00000485010.1:p.Trp823Ter
ENST00000695879.1:n.2360G>A
XM_006720880.2:c.2763G>A XP_006720943.2:p.Trp921Ter
XM_006720880.3:c.2763G>A XP_006720943.2:p.Trp921Ter
XM_011522484.1:c.2763G>A XP_011520786.1:p.Trp921Ter
XM_011522484.3:c.2763G>A XP_011520786.1:p.Trp921Ter
XM_011522485.1:c.2763G>A XP_011520787.1:p.Trp921Ter
XM_011522485.2:c.2763G>A XP_011520787.1:p.Trp921Ter
XM_011522486.1:c.2763G>A XP_011520788.1:p.Trp921Ter
XM_011522486.2:c.2763G>A XP_011520788.1:p.Trp921Ter
XM_011522487.1:c.2517G>A XP_011520789.1:p.Trp839Ter
XM_011522487.2:c.2517G>A XP_011520789.1:p.Trp839Ter
XM_011522488.1:c.2514G>A XP_011520790.1:p.Trp838Ter
XM_011522488.2:c.2514G>A XP_011520790.1:p.Trp838Ter
XM_011522489.1:c.2514G>A XP_011520791.1:p.Trp838Ter
XM_011522489.2:c.2514G>A XP_011520791.1:p.Trp838Ter
XM_011522490.1:c.2511G>A XP_011520792.1:p.Trp837Ter
XM_011522490.2:c.2511G>A XP_011520792.1:p.Trp837Ter
XM_011522491.1:c.2763G>A XP_011520793.1:p.Trp921Ter
XM_011522491.2:c.2763G>A XP_011520793.1:p.Trp921Ter
XM_011522492.1:c.2469G>A XP_011520794.1:p.Trp823Ter
XM_011522492.2:c.2469G>A XP_011520794.1:p.Trp823Ter
XM_011522493.1:c.2466G>A XP_011520795.1:p.Trp822Ter
XM_011522493.2:c.2466G>A XP_011520795.1:p.Trp822Ter
XM_011522494.1:c.2397G>A XP_011520796.1:p.Trp799Ter
XM_011522494.2:c.2397G>A XP_011520796.1:p.Trp799Ter
XM_011522495.1:c.2322G>A XP_011520797.1:p.Trp774Ter
XM_011522495.2:c.2322G>A XP_011520797.1:p.Trp774Ter
XM_011522496.1:c.2319G>A XP_011520798.1:p.Trp773Ter
XM_011522496.2:c.2319G>A XP_011520798.1:p.Trp773Ter
XM_024450280.1:c.2709G>A XP_024306048.1:p.Trp903Ter
XM_024450281.1:c.2562G>A XP_024306049.1:p.Trp854Ter
XR_001751904.1:n.2782G>A
XR_932841.1:n.2778G>A
XR_932841.3:n.2780G>A
XR_932842.1:n.2778G>A
XR_932842.2:n.2780G>A
XR_932843.1:n.2778G>A
XR_932846.1:n.2778G>A
XR_932846.3:n.2782G>A
XR_932847.1:n.2778G>A
XR_932847.3:n.2782G>A
XR_932848.1:n.1010-1025G>A