Canonical Allele Identifier: CA394727885
Community Standard Title: NM_000246.4(CIITA):c.436+2T>C
Gene: CIITA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.10899004T>C , CM000678.2:g.10899004T>C GRCh38
NC_000016.9:g.10992861T>C , CM000678.1:g.10992861T>C GRCh37
NC_000016.8:g.10900362T>C NCBI36
NG_009628.1:g.26807T>C , LRG_49:g.26807T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000246.4:c.436+2T>C MANE Select NP_000237.2:n.436+2T>C
ENST00000324288.14:c.436+2T>C MANE Select ENSP00000316328.8:n.436+2T>C
NM_000246.3:c.436+2T>C , LRG_49t1:c.436+2T>C NP_000237.2:n.436+2T>C
NM_001286402.1:c.439+2T>C NP_001273331.1:n.439+2T>C
NM_001286403.1:c.436+2T>C NP_001273332.1:n.436+2T>C
NM_001286403.2:c.436+2T>C NP_001273332.1:n.436+2T>C
NM_001379330.1:c.439+2T>C NP_001366259.1:n.439+2T>C
NM_001379331.1:c.436+2T>C NP_001366260.1:n.436+2T>C
NM_001379332.1:c.439+2T>C NP_001366261.1:n.439+2T>C
NM_001379333.1:c.436+2T>C NP_001366262.1:n.436+2T>C
NM_001379334.1:c.367+2T>C NP_001366263.1:n.367+2T>C
NR_104444.1:n.569+2T>C
NR_104444.2:n.565+2T>C
ENST00000324288.12:c.436+2T>C ENSP00000316328.8:n.436+2T>C
ENST00000381835.9:c.436+2T>C ENSP00000371257.5:n.436+2T>C
ENST00000537380.1:n.436+2T>C
ENST00000570546.5:n.557+2T>C
ENST00000571186.5:c.436+2T>C ENSP00000459829.1:n.436+2T>C
ENST00000573309.5:n.554+2T>C
ENST00000576601.1:c.364+2T>C ENSP00000459608.1:n.364+2T>C
ENST00000611587.4:c.439+2T>C ENSP00000483487.1:n.439+2T>C
ENST00000618207.4:c.436+2T>C ENSP00000484761.1:n.436+2T>C
ENST00000618327.4:c.439+2T>C ENSP00000485010.1:n.439+2T>C
ENST00000636238.1:c.367+2T>C ENSP00000490205.1:n.367+2T>C
ENST00000637439.1:c.670+2T>C ENSP00000489907.1:n.670+2T>C
ENST00000695878.1:n.786T>C
ENST00000695879.1:n.461+2T>C
XM_006720880.2:c.733+2T>C XP_006720943.2:n.733+2T>C
XM_006720880.3:c.733+2T>C XP_006720943.2:n.733+2T>C
XM_011522484.1:c.733+2T>C XP_011520786.1:n.733+2T>C
XM_011522484.3:c.733+2T>C XP_011520786.1:n.733+2T>C
XM_011522485.1:c.733+2T>C XP_011520787.1:n.733+2T>C
XM_011522485.2:c.733+2T>C XP_011520787.1:n.733+2T>C
XM_011522486.1:c.733+2T>C XP_011520788.1:n.733+2T>C
XM_011522486.2:c.733+2T>C XP_011520788.1:n.733+2T>C
XM_011522487.1:c.634+2T>C XP_011520789.1:n.634+2T>C
XM_011522487.2:c.634+2T>C XP_011520789.1:n.634+2T>C
XM_011522488.1:c.484+2T>C XP_011520790.1:n.484+2T>C
XM_011522488.2:c.484+2T>C XP_011520790.1:n.484+2T>C
XM_011522489.1:c.631+2T>C XP_011520791.1:n.631+2T>C
XM_011522489.2:c.631+2T>C XP_011520791.1:n.631+2T>C
XM_011522490.1:c.481+2T>C XP_011520792.1:n.481+2T>C
XM_011522490.2:c.481+2T>C XP_011520792.1:n.481+2T>C
XM_011522491.1:c.733+2T>C XP_011520793.1:n.733+2T>C
XM_011522491.2:c.733+2T>C XP_011520793.1:n.733+2T>C
XM_011522492.1:c.439+2T>C XP_011520794.1:n.439+2T>C
XM_011522492.2:c.439+2T>C XP_011520794.1:n.439+2T>C
XM_011522493.1:c.436+2T>C XP_011520795.1:n.436+2T>C
XM_011522493.2:c.436+2T>C XP_011520795.1:n.436+2T>C
XM_011522494.1:c.367+2T>C XP_011520796.1:n.367+2T>C
XM_011522494.2:c.367+2T>C XP_011520796.1:n.367+2T>C
XM_011522495.1:c.439+2T>C XP_011520797.1:n.439+2T>C
XM_011522495.2:c.439+2T>C XP_011520797.1:n.439+2T>C
XM_011522496.1:c.436+2T>C XP_011520798.1:n.436+2T>C
XM_011522496.2:c.436+2T>C XP_011520798.1:n.436+2T>C
XM_024450280.1:c.679+2T>C XP_024306048.1:n.679+2T>C
XM_024450281.1:c.679+2T>C XP_024306049.1:n.679+2T>C
XR_001751904.1:n.752+2T>C
XR_002957858.1:n.385-99A>G
XR_002957859.1:n.385-99A>G
XR_932841.1:n.748+2T>C
XR_932841.3:n.750+2T>C
XR_932842.1:n.748+2T>C
XR_932842.2:n.750+2T>C
XR_932843.1:n.748+2T>C
XR_932846.1:n.748+2T>C
XR_932846.3:n.752+2T>C
XR_932847.1:n.748+2T>C
XR_932847.3:n.752+2T>C
XR_932848.1:n.586+2T>C