Canonical Allele Identifier: CA394729420
Community Standard Title: NM_000246.4(CIITA):c.937+2T>C
Gene: CIITA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.10903897T>C , CM000678.2:g.10903897T>C GRCh38
NC_000016.9:g.10997754T>C , CM000678.1:g.10997754T>C GRCh37
NC_000016.8:g.10905255T>C NCBI36
NG_009628.1:g.31700T>C , LRG_49:g.31700T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000246.4:c.937+2T>C MANE Select NP_000237.2:n.937+2T>C
ENST00000324288.14:c.937+2T>C MANE Select ENSP00000316328.8:n.937+2T>C
NM_000246.3:c.937+2T>C , LRG_49t1:c.937+2T>C NP_000237.2:n.937+2T>C
NM_001286402.1:c.940+2T>C NP_001273331.1:n.940+2T>C
NM_001286403.1:c.790+2T>C NP_001273332.1:n.790+2T>C
NM_001286403.2:c.790+2T>C NP_001273332.1:n.790+2T>C
NM_001379330.1:c.793+2T>C NP_001366259.1:n.793+2T>C
NM_001379331.1:c.790+2T>C NP_001366260.1:n.790+2T>C
NM_001379332.1:c.940+2T>C NP_001366261.1:n.940+2T>C
NM_001379333.1:c.937+2T>C NP_001366262.1:n.937+2T>C
NM_001379334.1:c.868+2T>C NP_001366263.1:n.868+2T>C
NR_104444.1:n.1070+2T>C
NR_104444.2:n.1066+2T>C
ENST00000324288.12:c.937+2T>C ENSP00000316328.8:n.937+2T>C
ENST00000381835.9:c.790+2T>C ENSP00000371257.5:n.790+2T>C
ENST00000537380.1:n.937+2T>C
ENST00000570546.5:n.1058+2T>C
ENST00000573309.5:n.908+2T>C
ENST00000611587.4:c.793+2T>C ENSP00000483487.1:n.793+2T>C
ENST00000618207.4:c.937+2T>C ENSP00000484761.1:n.937+2T>C
ENST00000618327.4:c.940+2T>C ENSP00000485010.1:n.940+2T>C
ENST00000695879.1:n.962+2T>C
XM_006720880.2:c.1234+2T>C XP_006720943.2:n.1234+2T>C
XM_006720880.3:c.1234+2T>C XP_006720943.2:n.1234+2T>C
XM_011522484.1:c.1234+2T>C XP_011520786.1:n.1234+2T>C
XM_011522484.3:c.1234+2T>C XP_011520786.1:n.1234+2T>C
XM_011522485.1:c.1234+2T>C XP_011520787.1:n.1234+2T>C
XM_011522485.2:c.1234+2T>C XP_011520787.1:n.1234+2T>C
XM_011522486.1:c.1234+2T>C XP_011520788.1:n.1234+2T>C
XM_011522486.2:c.1234+2T>C XP_011520788.1:n.1234+2T>C
XM_011522487.1:c.988+2T>C XP_011520789.1:n.988+2T>C
XM_011522487.2:c.988+2T>C XP_011520789.1:n.988+2T>C
XM_011522488.1:c.985+2T>C XP_011520790.1:n.985+2T>C
XM_011522488.2:c.985+2T>C XP_011520790.1:n.985+2T>C
XM_011522489.1:c.985+2T>C XP_011520791.1:n.985+2T>C
XM_011522489.2:c.985+2T>C XP_011520791.1:n.985+2T>C
XM_011522490.1:c.982+2T>C XP_011520792.1:n.982+2T>C
XM_011522490.2:c.982+2T>C XP_011520792.1:n.982+2T>C
XM_011522491.1:c.1234+2T>C XP_011520793.1:n.1234+2T>C
XM_011522491.2:c.1234+2T>C XP_011520793.1:n.1234+2T>C
XM_011522492.1:c.940+2T>C XP_011520794.1:n.940+2T>C
XM_011522492.2:c.940+2T>C XP_011520794.1:n.940+2T>C
XM_011522493.1:c.937+2T>C XP_011520795.1:n.937+2T>C
XM_011522493.2:c.937+2T>C XP_011520795.1:n.937+2T>C
XM_011522494.1:c.868+2T>C XP_011520796.1:n.868+2T>C
XM_011522494.2:c.868+2T>C XP_011520796.1:n.868+2T>C
XM_011522495.1:c.793+2T>C XP_011520797.1:n.793+2T>C
XM_011522495.2:c.793+2T>C XP_011520797.1:n.793+2T>C
XM_011522496.1:c.790+2T>C XP_011520798.1:n.790+2T>C
XM_011522496.2:c.790+2T>C XP_011520798.1:n.790+2T>C
XM_024450280.1:c.1180+2T>C XP_024306048.1:n.1180+2T>C
XM_024450281.1:c.1033+2T>C XP_024306049.1:n.1033+2T>C
XR_001751904.1:n.1253+2T>C
XR_932841.1:n.1249+2T>C
XR_932841.3:n.1251+2T>C
XR_932842.1:n.1249+2T>C
XR_932842.2:n.1251+2T>C
XR_932843.1:n.1249+2T>C
XR_932846.1:n.1249+2T>C
XR_932846.3:n.1253+2T>C
XR_932847.1:n.1249+2T>C
XR_932847.3:n.1253+2T>C
XR_932848.1:n.940+2T>C