Canonical Allele Identifier: CA7899975
Community Standard Title: NM_000246.4(CIITA):c.947C>T (p.Thr316Met)
Gene: CIITA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.10904753C>T , CM000678.2:g.10904753C>T GRCh38
NC_000016.9:g.10998610C>T , CM000678.1:g.10998610C>T GRCh37
NC_000016.8:g.10906111C>T NCBI36
NG_009628.1:g.32556C>T , LRG_49:g.32556C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000246.4:c.947C>T MANE Select NP_000237.2:p.Thr316Met
ENST00000324288.14:c.947C>T MANE Select ENSP00000316328.8:p.Thr316Met
NM_000246.3:c.947C>T , LRG_49t1:c.947C>T NP_000237.2:p.Thr316Met
NM_001286402.1:c.950C>T NP_001273331.1:p.Thr317Met
NM_001286403.1:c.800C>T NP_001273332.1:p.Thr267Met
NM_001286403.2:c.800C>T NP_001273332.1:p.Thr267Met
NM_001379330.1:c.803C>T NP_001366259.1:p.Thr268Met
NM_001379331.1:c.800C>T NP_001366260.1:p.Thr267Met
NM_001379332.1:c.950C>T NP_001366261.1:p.Thr317Met
NM_001379333.1:c.947C>T NP_001366262.1:p.Thr316Met
NM_001379334.1:c.878C>T NP_001366263.1:p.Thr293Met
NR_104444.1:n.1080C>T
NR_104444.2:n.1076C>T
ENST00000324288.12:c.947C>T ENSP00000316328.8:p.Thr316Met
ENST00000381835.9:c.800C>T ENSP00000371257.5:p.Thr267Met
ENST00000537380.1:n.947C>T
ENST00000570546.5:n.1068C>T
ENST00000573309.5:n.918C>T
ENST00000611587.4:c.803C>T ENSP00000483487.1:p.Thr268Met
ENST00000618207.4:c.947C>T ENSP00000484761.1:p.Thr316Met
ENST00000618327.4:c.950C>T ENSP00000485010.1:p.Thr317Met
ENST00000695879.1:n.972C>T
XM_006720880.2:c.1244C>T XP_006720943.2:p.Thr415Met
XM_006720880.3:c.1244C>T XP_006720943.2:p.Thr415Met
XM_011522484.1:c.1244C>T XP_011520786.1:p.Thr415Met
XM_011522484.3:c.1244C>T XP_011520786.1:p.Thr415Met
XM_011522485.1:c.1244C>T XP_011520787.1:p.Thr415Met
XM_011522485.2:c.1244C>T XP_011520787.1:p.Thr415Met
XM_011522486.1:c.1244C>T XP_011520788.1:p.Thr415Met
XM_011522486.2:c.1244C>T XP_011520788.1:p.Thr415Met
XM_011522487.1:c.998C>T XP_011520789.1:p.Thr333Met
XM_011522487.2:c.998C>T XP_011520789.1:p.Thr333Met
XM_011522488.1:c.995C>T XP_011520790.1:p.Thr332Met
XM_011522488.2:c.995C>T XP_011520790.1:p.Thr332Met
XM_011522489.1:c.995C>T XP_011520791.1:p.Thr332Met
XM_011522489.2:c.995C>T XP_011520791.1:p.Thr332Met
XM_011522490.1:c.992C>T XP_011520792.1:p.Thr331Met
XM_011522490.2:c.992C>T XP_011520792.1:p.Thr331Met
XM_011522491.1:c.1244C>T XP_011520793.1:p.Thr415Met
XM_011522491.2:c.1244C>T XP_011520793.1:p.Thr415Met
XM_011522492.1:c.950C>T XP_011520794.1:p.Thr317Met
XM_011522492.2:c.950C>T XP_011520794.1:p.Thr317Met
XM_011522493.1:c.947C>T XP_011520795.1:p.Thr316Met
XM_011522493.2:c.947C>T XP_011520795.1:p.Thr316Met
XM_011522494.1:c.878C>T XP_011520796.1:p.Thr293Met
XM_011522494.2:c.878C>T XP_011520796.1:p.Thr293Met
XM_011522495.1:c.803C>T XP_011520797.1:p.Thr268Met
XM_011522495.2:c.803C>T XP_011520797.1:p.Thr268Met
XM_011522496.1:c.800C>T XP_011520798.1:p.Thr267Met
XM_011522496.2:c.800C>T XP_011520798.1:p.Thr267Met
XM_024450280.1:c.1190C>T XP_024306048.1:p.Thr397Met
XM_024450281.1:c.1043C>T XP_024306049.1:p.Thr348Met
XR_001751904.1:n.1263C>T
XR_932841.1:n.1259C>T
XR_932841.3:n.1261C>T
XR_932842.1:n.1259C>T
XR_932842.2:n.1261C>T
XR_932843.1:n.1259C>T
XR_932846.1:n.1259C>T
XR_932846.3:n.1263C>T
XR_932847.1:n.1259C>T
XR_932847.3:n.1263C>T
XR_932848.1:n.950C>T