Canonical Allele Identifier: CA7900716

Gene: CIITA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10922192G>A , CM000678.2:g.10922192G>A	GRCh38
NC_000016.9:g.11016049G>A , CM000678.1:g.11016049G>A	GRCh37
NC_000016.8:g.10923550G>A	NCBI36
NG_009628.1:g.49995G>A , LRG_49:g.49995G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000246.4:c.3175G>A MANE Select	NP_000237.2:p.Val1059Met
ENST00000324288.14:c.3175G>A MANE Select	ENSP00000316328.8:p.Val1059Met
NM_000246.3:c.3175G>A , LRG_49t1:c.3175G>A	NP_000237.2:p.Val1059Met
NM_001286402.1:c.3178G>A	NP_001273331.1:p.Val1060Met
NM_001286403.1:c.1423G>A	NP_001273332.1:p.Val475Met
NM_001286403.2:c.1423G>A	NP_001273332.1:p.Val475Met
NM_001379330.1:c.3031G>A	NP_001366259.1:p.Val1011Met
NM_001379331.1:c.3028G>A	NP_001366260.1:p.Val1010Met
NM_001379332.1:c.3178G>A	NP_001366261.1:p.Val1060Met
NM_001379333.1:c.3175G>A	NP_001366262.1:p.Val1059Met
NM_001379334.1:c.3106G>A	NP_001366263.1:p.Val1036Met
NR_104444.1:n.1498G>A
NR_104444.2:n.1494G>A
ENST00000324288.12:c.3175G>A	ENSP00000316328.8:p.Val1059Met
ENST00000381835.9:c.1423G>A	ENSP00000371257.5:p.Val475Met
ENST00000570546.5:n.4175G>A
ENST00000618207.4:c.*303G>A	ENSP00000484761.1:n.*303G>A
ENST00000618327.4:c.3178G>A	ENSP00000485010.1:p.Val1060Met
ENST00000644232.1:c.26G>A
ENST00000646979.1:c.26G>A
XM_006720880.2:c.3472G>A	XP_006720943.2:p.Val1158Met
XM_006720880.3:c.3472G>A	XP_006720943.2:p.Val1158Met
XM_011522484.1:c.3472G>A	XP_011520786.1:p.Val1158Met
XM_011522484.3:c.3472G>A	XP_011520786.1:p.Val1158Met
XM_011522485.1:c.3472G>A	XP_011520787.1:p.Val1158Met
XM_011522485.2:c.3472G>A	XP_011520787.1:p.Val1158Met
XM_011522487.1:c.3226G>A	XP_011520789.1:p.Val1076Met
XM_011522487.2:c.3226G>A	XP_011520789.1:p.Val1076Met
XM_011522488.1:c.3223G>A	XP_011520790.1:p.Val1075Met
XM_011522488.2:c.3223G>A	XP_011520790.1:p.Val1075Met
XM_011522489.1:c.3223G>A	XP_011520791.1:p.Val1075Met
XM_011522489.2:c.3223G>A	XP_011520791.1:p.Val1075Met
XM_011522490.1:c.3220G>A	XP_011520792.1:p.Val1074Met
XM_011522490.2:c.3220G>A	XP_011520792.1:p.Val1074Met
XM_011522492.1:c.3178G>A	XP_011520794.1:p.Val1060Met
XM_011522492.2:c.3178G>A	XP_011520794.1:p.Val1060Met
XM_011522493.1:c.3175G>A	XP_011520795.1:p.Val1059Met
XM_011522493.2:c.3175G>A	XP_011520795.1:p.Val1059Met
XM_011522494.1:c.3106G>A	XP_011520796.1:p.Val1036Met
XM_011522494.2:c.3106G>A	XP_011520796.1:p.Val1036Met
XM_011522495.1:c.3031G>A	XP_011520797.1:p.Val1011Met
XM_011522495.2:c.3031G>A	XP_011520797.1:p.Val1011Met
XM_011522496.1:c.3028G>A	XP_011520798.1:p.Val1010Met
XM_011522496.2:c.3028G>A	XP_011520798.1:p.Val1010Met
XM_024450280.1:c.3418G>A	XP_024306048.1:p.Val1140Met
XM_024450281.1:c.3271G>A	XP_024306049.1:p.Val1091Met
XR_001751904.1:n.3537G>A
XR_932841.1:n.3487G>A
XR_932841.3:n.3489G>A
XR_932842.1:n.3487G>A
XR_932842.2:n.3489G>A
XR_932843.1:n.3487G>A
XR_932846.1:n.3533G>A
XR_932846.3:n.3537G>A
XR_932848.1:n.1573G>A