Canonical Allele Identifier: CA394729424
Community Standard Title: NM_000246.4(CIITA):c.938-2A>G
Gene: CIITA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.10904742A>G , CM000678.2:g.10904742A>G GRCh38
NC_000016.9:g.10998599A>G , CM000678.1:g.10998599A>G GRCh37
NC_000016.8:g.10906100A>G NCBI36
NG_009628.1:g.32545A>G , LRG_49:g.32545A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000246.4:c.938-2A>G MANE Select NP_000237.2:n.938-2A>G
ENST00000324288.14:c.938-2A>G MANE Select ENSP00000316328.8:n.938-2A>G
NM_000246.3:c.938-2A>G , LRG_49t1:c.938-2A>G NP_000237.2:n.938-2A>G
NM_001286402.1:c.941-2A>G NP_001273331.1:n.941-2A>G
NM_001286403.1:c.791-2A>G NP_001273332.1:n.791-2A>G
NM_001286403.2:c.791-2A>G NP_001273332.1:n.791-2A>G
NM_001379330.1:c.794-2A>G NP_001366259.1:n.794-2A>G
NM_001379331.1:c.791-2A>G NP_001366260.1:n.791-2A>G
NM_001379332.1:c.941-2A>G NP_001366261.1:n.941-2A>G
NM_001379333.1:c.938-2A>G NP_001366262.1:n.938-2A>G
NM_001379334.1:c.869-2A>G NP_001366263.1:n.869-2A>G
NR_104444.1:n.1071-2A>G
NR_104444.2:n.1067-2A>G
ENST00000324288.12:c.938-2A>G ENSP00000316328.8:n.938-2A>G
ENST00000381835.9:c.791-2A>G ENSP00000371257.5:n.791-2A>G
ENST00000537380.1:n.938-2A>G
ENST00000570546.5:n.1059-2A>G
ENST00000573309.5:n.909-2A>G
ENST00000611587.4:c.794-2A>G ENSP00000483487.1:n.794-2A>G
ENST00000618207.4:c.938-2A>G ENSP00000484761.1:n.938-2A>G
ENST00000618327.4:c.941-2A>G ENSP00000485010.1:n.941-2A>G
ENST00000695879.1:n.963-2A>G
XM_006720880.2:c.1235-2A>G XP_006720943.2:n.1235-2A>G
XM_006720880.3:c.1235-2A>G XP_006720943.2:n.1235-2A>G
XM_011522484.1:c.1235-2A>G XP_011520786.1:n.1235-2A>G
XM_011522484.3:c.1235-2A>G XP_011520786.1:n.1235-2A>G
XM_011522485.1:c.1235-2A>G XP_011520787.1:n.1235-2A>G
XM_011522485.2:c.1235-2A>G XP_011520787.1:n.1235-2A>G
XM_011522486.1:c.1235-2A>G XP_011520788.1:n.1235-2A>G
XM_011522486.2:c.1235-2A>G XP_011520788.1:n.1235-2A>G
XM_011522487.1:c.989-2A>G XP_011520789.1:n.989-2A>G
XM_011522487.2:c.989-2A>G XP_011520789.1:n.989-2A>G
XM_011522488.1:c.986-2A>G XP_011520790.1:n.986-2A>G
XM_011522488.2:c.986-2A>G XP_011520790.1:n.986-2A>G
XM_011522489.1:c.986-2A>G XP_011520791.1:n.986-2A>G
XM_011522489.2:c.986-2A>G XP_011520791.1:n.986-2A>G
XM_011522490.1:c.983-2A>G XP_011520792.1:n.983-2A>G
XM_011522490.2:c.983-2A>G XP_011520792.1:n.983-2A>G
XM_011522491.1:c.1235-2A>G XP_011520793.1:n.1235-2A>G
XM_011522491.2:c.1235-2A>G XP_011520793.1:n.1235-2A>G
XM_011522492.1:c.941-2A>G XP_011520794.1:n.941-2A>G
XM_011522492.2:c.941-2A>G XP_011520794.1:n.941-2A>G
XM_011522493.1:c.938-2A>G XP_011520795.1:n.938-2A>G
XM_011522493.2:c.938-2A>G XP_011520795.1:n.938-2A>G
XM_011522494.1:c.869-2A>G XP_011520796.1:n.869-2A>G
XM_011522494.2:c.869-2A>G XP_011520796.1:n.869-2A>G
XM_011522495.1:c.794-2A>G XP_011520797.1:n.794-2A>G
XM_011522495.2:c.794-2A>G XP_011520797.1:n.794-2A>G
XM_011522496.1:c.791-2A>G XP_011520798.1:n.791-2A>G
XM_011522496.2:c.791-2A>G XP_011520798.1:n.791-2A>G
XM_024450280.1:c.1181-2A>G XP_024306048.1:n.1181-2A>G
XM_024450281.1:c.1034-2A>G XP_024306049.1:n.1034-2A>G
XR_001751904.1:n.1254-2A>G
XR_932841.1:n.1250-2A>G
XR_932841.3:n.1252-2A>G
XR_932842.1:n.1250-2A>G
XR_932842.2:n.1252-2A>G
XR_932843.1:n.1250-2A>G
XR_932846.1:n.1250-2A>G
XR_932846.3:n.1254-2A>G
XR_932847.1:n.1250-2A>G
XR_932847.3:n.1254-2A>G
XR_932848.1:n.941-2A>G