Canonical Allele Identifier: CA394733613
Community Standard Title: NM_000246.4(CIITA):c.2436C>A (p.Cys812Ter)
Gene: CIITA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.10907928C>A , CM000678.2:g.10907928C>A GRCh38
NC_000016.9:g.11001785C>A , CM000678.1:g.11001785C>A GRCh37
NC_000016.8:g.10909286C>A NCBI36
NG_009628.1:g.35731C>A , LRG_49:g.35731C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000246.4:c.2436C>A MANE Select NP_000237.2:p.Cys812Ter
ENST00000324288.14:c.2436C>A MANE Select ENSP00000316328.8:p.Cys812Ter
NM_000246.3:c.2436C>A , LRG_49t1:c.2436C>A NP_000237.2:p.Cys812Ter
NM_001286402.1:c.2439C>A NP_001273331.1:p.Cys813Ter
NM_001286403.1:c.860-1055C>A NP_001273332.1:n.860-1055C>A
NM_001286403.2:c.860-1055C>A NP_001273332.1:n.860-1055C>A
NM_001379330.1:c.2292C>A NP_001366259.1:p.Cys764Ter
NM_001379331.1:c.2289C>A NP_001366260.1:p.Cys763Ter
NM_001379332.1:c.2439C>A NP_001366261.1:p.Cys813Ter
NM_001379333.1:c.2436C>A NP_001366262.1:p.Cys812Ter
NM_001379334.1:c.2367C>A NP_001366263.1:p.Cys789Ter
NR_104444.1:n.1140-2260C>A
NR_104444.2:n.1136-2260C>A
ENST00000324288.12:c.2436C>A ENSP00000316328.8:p.Cys812Ter
ENST00000381835.9:c.860-1055C>A ENSP00000371257.5:n.860-1055C>A
ENST00000537380.1:n.1007-2260C>A
ENST00000570546.5:n.2557C>A
ENST00000573309.5:n.2407C>A
ENST00000611587.4:c.2292C>A ENSP00000483487.1:p.Cys764Ter
ENST00000618207.4:c.1007-2260C>A ENSP00000484761.1:n.1007-2260C>A
ENST00000618327.4:c.2439C>A ENSP00000485010.1:p.Cys813Ter
ENST00000695879.1:n.2330C>A
XM_006720880.2:c.2733C>A XP_006720943.2:p.Cys911Ter
XM_006720880.3:c.2733C>A XP_006720943.2:p.Cys911Ter
XM_011522484.1:c.2733C>A XP_011520786.1:p.Cys911Ter
XM_011522484.3:c.2733C>A XP_011520786.1:p.Cys911Ter
XM_011522485.1:c.2733C>A XP_011520787.1:p.Cys911Ter
XM_011522485.2:c.2733C>A XP_011520787.1:p.Cys911Ter
XM_011522486.1:c.2733C>A XP_011520788.1:p.Cys911Ter
XM_011522486.2:c.2733C>A XP_011520788.1:p.Cys911Ter
XM_011522487.1:c.2487C>A XP_011520789.1:p.Cys829Ter
XM_011522487.2:c.2487C>A XP_011520789.1:p.Cys829Ter
XM_011522488.1:c.2484C>A XP_011520790.1:p.Cys828Ter
XM_011522488.2:c.2484C>A XP_011520790.1:p.Cys828Ter
XM_011522489.1:c.2484C>A XP_011520791.1:p.Cys828Ter
XM_011522489.2:c.2484C>A XP_011520791.1:p.Cys828Ter
XM_011522490.1:c.2481C>A XP_011520792.1:p.Cys827Ter
XM_011522490.2:c.2481C>A XP_011520792.1:p.Cys827Ter
XM_011522491.1:c.2733C>A XP_011520793.1:p.Cys911Ter
XM_011522491.2:c.2733C>A XP_011520793.1:p.Cys911Ter
XM_011522492.1:c.2439C>A XP_011520794.1:p.Cys813Ter
XM_011522492.2:c.2439C>A XP_011520794.1:p.Cys813Ter
XM_011522493.1:c.2436C>A XP_011520795.1:p.Cys812Ter
XM_011522493.2:c.2436C>A XP_011520795.1:p.Cys812Ter
XM_011522494.1:c.2367C>A XP_011520796.1:p.Cys789Ter
XM_011522494.2:c.2367C>A XP_011520796.1:p.Cys789Ter
XM_011522495.1:c.2292C>A XP_011520797.1:p.Cys764Ter
XM_011522495.2:c.2292C>A XP_011520797.1:p.Cys764Ter
XM_011522496.1:c.2289C>A XP_011520798.1:p.Cys763Ter
XM_011522496.2:c.2289C>A XP_011520798.1:p.Cys763Ter
XM_024450280.1:c.2679C>A XP_024306048.1:p.Cys893Ter
XM_024450281.1:c.2532C>A XP_024306049.1:p.Cys844Ter
XR_001751904.1:n.2752C>A
XR_932841.1:n.2748C>A
XR_932841.3:n.2750C>A
XR_932842.1:n.2748C>A
XR_932842.2:n.2750C>A
XR_932843.1:n.2748C>A
XR_932846.1:n.2748C>A
XR_932846.3:n.2752C>A
XR_932847.1:n.2748C>A
XR_932847.3:n.2752C>A
XR_932848.1:n.1010-1055C>A