Canonical Allele Identifier: CA394728196
Gene: CIITA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.10902070C>G , CM000678.2:g.10902070C>G GRCh38
NC_000016.9:g.10995927C>G , CM000678.1:g.10995927C>G GRCh37
NC_000016.8:g.10903428C>G NCBI36
NG_009628.1:g.29873C>G , LRG_49:g.29873C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695879.1:n.539C>G
ENST00000324288.14:c.514C>G MANE Select ENSP00000316328.8:p.Leu172Val
ENST00000637439.1:c.748C>G ENSP00000489907.1:p.Leu250Val
ENST00000324288.12:c.514C>G ENSP00000316328.8:p.Leu172Val
ENST00000381835.9:c.481+512C>G ENSP00000371257.5:n.481+512C>G
ENST00000537380.1:n.514C>G
ENST00000570546.5:n.635C>G
ENST00000571186.5:c.*235C>G ENSP00000459829.1:n.*235C>G
ENST00000573309.5:n.599+512C>G
ENST00000576601.1:c.442C>G ENSP00000459608.1:p.Leu148Val
ENST00000611587.4:c.484+512C>G ENSP00000483487.1:n.484+512C>G
ENST00000618207.4:c.514C>G ENSP00000484761.1:p.Leu172Val
ENST00000618327.4:c.517C>G ENSP00000485010.1:p.Leu173Val
NM_000246.3:c.514C>G , LRG_49t1:c.514C>G NP_000237.2:p.Leu172Val
NM_001286402.1:c.517C>G NP_001273331.1:p.Leu173Val
NM_001286403.1:c.481+512C>G NP_001273332.1:n.481+512C>G
NR_104444.1:n.647C>G
XM_006720880.2:c.811C>G XP_006720943.2:p.Leu271Val
XM_011522484.1:c.811C>G XP_011520786.1:p.Leu271Val
XM_011522485.1:c.811C>G XP_011520787.1:p.Leu271Val
XM_011522486.1:c.811C>G XP_011520788.1:p.Leu271Val
XM_011522487.1:c.679+512C>G XP_011520789.1:n.679+512C>G
XM_011522488.1:c.562C>G XP_011520790.1:p.Leu188Val
XM_011522489.1:c.676+512C>G XP_011520791.1:n.676+512C>G
XM_011522490.1:c.559C>G XP_011520792.1:p.Leu187Val
XM_011522491.1:c.811C>G XP_011520793.1:p.Leu271Val
XM_011522492.1:c.517C>G XP_011520794.1:p.Leu173Val
XM_011522493.1:c.514C>G XP_011520795.1:p.Leu172Val
XM_011522494.1:c.445C>G XP_011520796.1:p.Leu149Val
XM_011522495.1:c.484+512C>G XP_011520797.1:n.484+512C>G
XM_011522496.1:c.481+512C>G XP_011520798.1:n.481+512C>G
XR_932841.1:n.826C>G
XR_932842.1:n.826C>G
XR_932843.1:n.826C>G
XR_932846.1:n.826C>G
XR_932847.1:n.826C>G
XR_932848.1:n.631+512C>G
XM_006720880.3:c.811C>G XP_006720943.2:p.Leu271Val
XM_011522484.3:c.811C>G XP_011520786.1:p.Leu271Val
XM_011522485.2:c.811C>G XP_011520787.1:p.Leu271Val
XM_011522486.2:c.811C>G XP_011520788.1:p.Leu271Val
XM_011522487.2:c.679+512C>G XP_011520789.1:n.679+512C>G
XM_011522488.2:c.562C>G XP_011520790.1:p.Leu188Val
XM_011522489.2:c.676+512C>G XP_011520791.1:n.676+512C>G
XM_011522490.2:c.559C>G XP_011520792.1:p.Leu187Val
XM_011522491.2:c.811C>G XP_011520793.1:p.Leu271Val
XM_011522492.2:c.517C>G XP_011520794.1:p.Leu173Val
XM_011522493.2:c.514C>G XP_011520795.1:p.Leu172Val
XM_011522494.2:c.445C>G XP_011520796.1:p.Leu149Val
XM_011522495.2:c.484+512C>G XP_011520797.1:n.484+512C>G
XM_011522496.2:c.481+512C>G XP_011520798.1:n.481+512C>G
XM_024450280.1:c.757C>G XP_024306048.1:p.Leu253Val
XM_024450281.1:c.724+512C>G XP_024306049.1:n.724+512C>G
XR_001751904.1:n.830C>G
XR_932841.3:n.828C>G
XR_932842.2:n.828C>G
XR_932846.3:n.830C>G
XR_932847.3:n.830C>G
NM_001286403.2:c.481+512C>G NP_001273332.1:n.481+512C>G
NR_104444.2:n.643C>G
NM_000246.4:c.514C>G MANE Select NP_000237.2:p.Leu172Val
NM_001379330.1:c.484+512C>G NP_001366259.1:n.484+512C>G
NM_001379331.1:c.481+512C>G NP_001366260.1:n.481+512C>G
NM_001379332.1:c.517C>G NP_001366261.1:p.Leu173Val
NM_001379333.1:c.514C>G NP_001366262.1:p.Leu172Val
NM_001379334.1:c.445C>G NP_001366263.1:p.Leu149Val