Canonical Allele Identifier: CA394728624
Community Standard Title: NM_000246.4(CIITA):c.682C>T (p.Gln228Ter)
Gene: CIITA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.10902711C>T , CM000678.2:g.10902711C>T GRCh38
NC_000016.9:g.10996568C>T , CM000678.1:g.10996568C>T GRCh37
NC_000016.8:g.10904069C>T NCBI36
NG_009628.1:g.30514C>T , LRG_49:g.30514C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000246.4:c.682C>T MANE Select NP_000237.2:p.Gln228Ter
ENST00000324288.14:c.682C>T MANE Select ENSP00000316328.8:p.Gln228Ter
NM_000246.3:c.682C>T , LRG_49t1:c.682C>T NP_000237.2:p.Gln228Ter
NM_001286402.1:c.685C>T NP_001273331.1:p.Gln229Ter
NM_001286403.1:c.535C>T NP_001273332.1:p.Gln179Ter
NM_001286403.2:c.535C>T NP_001273332.1:p.Gln179Ter
NM_001379330.1:c.538C>T NP_001366259.1:p.Gln180Ter
NM_001379331.1:c.535C>T NP_001366260.1:p.Gln179Ter
NM_001379332.1:c.685C>T NP_001366261.1:p.Gln229Ter
NM_001379333.1:c.682C>T NP_001366262.1:p.Gln228Ter
NM_001379334.1:c.613C>T NP_001366263.1:p.Gln205Ter
NR_104444.1:n.815C>T
NR_104444.2:n.811C>T
ENST00000324288.12:c.682C>T ENSP00000316328.8:p.Gln228Ter
ENST00000381835.9:c.535C>T ENSP00000371257.5:p.Gln179Ter
ENST00000537380.1:n.682C>T
ENST00000570546.5:n.803C>T
ENST00000571186.5:c.*403C>T ENSP00000459829.1:n.*403C>T
ENST00000573309.5:n.653C>T
ENST00000611587.4:c.538C>T ENSP00000483487.1:p.Gln180Ter
ENST00000618207.4:c.682C>T ENSP00000484761.1:p.Gln228Ter
ENST00000618327.4:c.685C>T ENSP00000485010.1:p.Gln229Ter
ENST00000695879.1:n.707C>T
XM_006720880.2:c.979C>T XP_006720943.2:p.Gln327Ter
XM_006720880.3:c.979C>T XP_006720943.2:p.Gln327Ter
XM_011522484.1:c.979C>T XP_011520786.1:p.Gln327Ter
XM_011522484.3:c.979C>T XP_011520786.1:p.Gln327Ter
XM_011522485.1:c.979C>T XP_011520787.1:p.Gln327Ter
XM_011522485.2:c.979C>T XP_011520787.1:p.Gln327Ter
XM_011522486.1:c.979C>T XP_011520788.1:p.Gln327Ter
XM_011522486.2:c.979C>T XP_011520788.1:p.Gln327Ter
XM_011522487.1:c.733C>T XP_011520789.1:p.Gln245Ter
XM_011522487.2:c.733C>T XP_011520789.1:p.Gln245Ter
XM_011522488.1:c.730C>T XP_011520790.1:p.Gln244Ter
XM_011522488.2:c.730C>T XP_011520790.1:p.Gln244Ter
XM_011522489.1:c.730C>T XP_011520791.1:p.Gln244Ter
XM_011522489.2:c.730C>T XP_011520791.1:p.Gln244Ter
XM_011522490.1:c.727C>T XP_011520792.1:p.Gln243Ter
XM_011522490.2:c.727C>T XP_011520792.1:p.Gln243Ter
XM_011522491.1:c.979C>T XP_011520793.1:p.Gln327Ter
XM_011522491.2:c.979C>T XP_011520793.1:p.Gln327Ter
XM_011522492.1:c.685C>T XP_011520794.1:p.Gln229Ter
XM_011522492.2:c.685C>T XP_011520794.1:p.Gln229Ter
XM_011522493.1:c.682C>T XP_011520795.1:p.Gln228Ter
XM_011522493.2:c.682C>T XP_011520795.1:p.Gln228Ter
XM_011522494.1:c.613C>T XP_011520796.1:p.Gln205Ter
XM_011522494.2:c.613C>T XP_011520796.1:p.Gln205Ter
XM_011522495.1:c.538C>T XP_011520797.1:p.Gln180Ter
XM_011522495.2:c.538C>T XP_011520797.1:p.Gln180Ter
XM_011522496.1:c.535C>T XP_011520798.1:p.Gln179Ter
XM_011522496.2:c.535C>T XP_011520798.1:p.Gln179Ter
XM_024450280.1:c.925C>T XP_024306048.1:p.Gln309Ter
XM_024450281.1:c.778C>T XP_024306049.1:p.Gln260Ter
XR_001751904.1:n.998C>T
XR_932841.1:n.994C>T
XR_932841.3:n.996C>T
XR_932842.1:n.994C>T
XR_932842.2:n.996C>T
XR_932843.1:n.994C>T
XR_932846.1:n.994C>T
XR_932846.3:n.998C>T
XR_932847.1:n.994C>T
XR_932847.3:n.998C>T
XR_932848.1:n.685C>T