Canonical Allele Identifier: CA394733713
Community Standard Title: NM_000246.4(CIITA):c.2479C>T (p.Gln827Ter)
Gene: CIITA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.10907971C>T , CM000678.2:g.10907971C>T GRCh38
NC_000016.9:g.11001828C>T , CM000678.1:g.11001828C>T GRCh37
NC_000016.8:g.10909329C>T NCBI36
NG_009628.1:g.35774C>T , LRG_49:g.35774C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000246.4:c.2479C>T MANE Select NP_000237.2:p.Gln827Ter
ENST00000324288.14:c.2479C>T MANE Select ENSP00000316328.8:p.Gln827Ter
NM_000246.3:c.2479C>T , LRG_49t1:c.2479C>T NP_000237.2:p.Gln827Ter
NM_001286402.1:c.2482C>T NP_001273331.1:p.Gln828Ter
NM_001286403.1:c.860-1012C>T NP_001273332.1:n.860-1012C>T
NM_001286403.2:c.860-1012C>T NP_001273332.1:n.860-1012C>T
NM_001379330.1:c.2335C>T NP_001366259.1:p.Gln779Ter
NM_001379331.1:c.2332C>T NP_001366260.1:p.Gln778Ter
NM_001379332.1:c.2482C>T NP_001366261.1:p.Gln828Ter
NM_001379333.1:c.2479C>T NP_001366262.1:p.Gln827Ter
NM_001379334.1:c.2410C>T NP_001366263.1:p.Gln804Ter
NR_104444.1:n.1140-2217C>T
NR_104444.2:n.1136-2217C>T
ENST00000324288.12:c.2479C>T ENSP00000316328.8:p.Gln827Ter
ENST00000381835.9:c.860-1012C>T ENSP00000371257.5:n.860-1012C>T
ENST00000537380.1:n.1007-2217C>T
ENST00000570546.5:n.2600C>T
ENST00000573309.5:n.2450C>T
ENST00000611587.4:c.2335C>T ENSP00000483487.1:p.Gln779Ter
ENST00000618207.4:c.1007-2217C>T ENSP00000484761.1:n.1007-2217C>T
ENST00000618327.4:c.2482C>T ENSP00000485010.1:p.Gln828Ter
ENST00000695879.1:n.2373C>T
XM_006720880.2:c.2776C>T XP_006720943.2:p.Gln926Ter
XM_006720880.3:c.2776C>T XP_006720943.2:p.Gln926Ter
XM_011522484.1:c.2776C>T XP_011520786.1:p.Gln926Ter
XM_011522484.3:c.2776C>T XP_011520786.1:p.Gln926Ter
XM_011522485.1:c.2776C>T XP_011520787.1:p.Gln926Ter
XM_011522485.2:c.2776C>T XP_011520787.1:p.Gln926Ter
XM_011522486.1:c.2776C>T XP_011520788.1:p.Gln926Ter
XM_011522486.2:c.2776C>T XP_011520788.1:p.Gln926Ter
XM_011522487.1:c.2530C>T XP_011520789.1:p.Gln844Ter
XM_011522487.2:c.2530C>T XP_011520789.1:p.Gln844Ter
XM_011522488.1:c.2527C>T XP_011520790.1:p.Gln843Ter
XM_011522488.2:c.2527C>T XP_011520790.1:p.Gln843Ter
XM_011522489.1:c.2527C>T XP_011520791.1:p.Gln843Ter
XM_011522489.2:c.2527C>T XP_011520791.1:p.Gln843Ter
XM_011522490.1:c.2524C>T XP_011520792.1:p.Gln842Ter
XM_011522490.2:c.2524C>T XP_011520792.1:p.Gln842Ter
XM_011522491.1:c.2776C>T XP_011520793.1:p.Gln926Ter
XM_011522491.2:c.2776C>T XP_011520793.1:p.Gln926Ter
XM_011522492.1:c.2482C>T XP_011520794.1:p.Gln828Ter
XM_011522492.2:c.2482C>T XP_011520794.1:p.Gln828Ter
XM_011522493.1:c.2479C>T XP_011520795.1:p.Gln827Ter
XM_011522493.2:c.2479C>T XP_011520795.1:p.Gln827Ter
XM_011522494.1:c.2410C>T XP_011520796.1:p.Gln804Ter
XM_011522494.2:c.2410C>T XP_011520796.1:p.Gln804Ter
XM_011522495.1:c.2335C>T XP_011520797.1:p.Gln779Ter
XM_011522495.2:c.2335C>T XP_011520797.1:p.Gln779Ter
XM_011522496.1:c.2332C>T XP_011520798.1:p.Gln778Ter
XM_011522496.2:c.2332C>T XP_011520798.1:p.Gln778Ter
XM_024450280.1:c.2722C>T XP_024306048.1:p.Gln908Ter
XM_024450281.1:c.2575C>T XP_024306049.1:p.Gln859Ter
XR_001751904.1:n.2795C>T
XR_932841.1:n.2791C>T
XR_932841.3:n.2793C>T
XR_932842.1:n.2791C>T
XR_932842.2:n.2793C>T
XR_932843.1:n.2791C>T
XR_932846.1:n.2791C>T
XR_932846.3:n.2795C>T
XR_932847.1:n.2791C>T
XR_932847.3:n.2795C>T
XR_932848.1:n.1010-1012C>T