Canonical Allele Identifier: CA2631712451

Gene: CIITA

Linked Data

• ClinVar Variation Id: 2819095
• ClinVar RCV Id: RCV003637183
• gnomAD v4: 16-10902203-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10902203A>T , CM000678.2:g.10902203A>T	GRCh38
NC_000016.9:g.10996060A>T , CM000678.1:g.10996060A>T	GRCh37
NC_000016.8:g.10903561A>T	NCBI36
NG_009628.1:g.30006A>T , LRG_49:g.30006A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695879.1:n.653+19A>T
ENST00000324288.14:c.628+19A>T MANE Select	ENSP00000316328.8:n.628+19A>T
ENST00000324288.12:c.628+19A>T	ENSP00000316328.8:n.628+19A>T
ENST00000381835.9:c.482-455A>T	ENSP00000371257.5:n.482-455A>T
ENST00000537380.1:n.628+19A>T
ENST00000570546.5:n.749+19A>T
ENST00000571186.5:c.*349+19A>T	ENSP00000459829.1:n.*349+19A>T
ENST00000573309.5:n.600-455A>T
ENST00000611587.4:c.485-455A>T	ENSP00000483487.1:n.485-455A>T
ENST00000618207.4:c.628+19A>T	ENSP00000484761.1:n.628+19A>T
ENST00000618327.4:c.631+19A>T	ENSP00000485010.1:n.631+19A>T
NM_000246.3:c.628+19A>T , LRG_49t1:c.628+19A>T	NP_000237.2:n.628+19A>T
NM_001286402.1:c.631+19A>T	NP_001273331.1:n.631+19A>T
NM_001286403.1:c.482-455A>T	NP_001273332.1:n.482-455A>T
NR_104444.1:n.761+19A>T
XM_006720880.2:c.925+19A>T	XP_006720943.2:n.925+19A>T
XM_011522484.1:c.925+19A>T	XP_011520786.1:n.925+19A>T
XM_011522485.1:c.925+19A>T	XP_011520787.1:n.925+19A>T
XM_011522486.1:c.925+19A>T	XP_011520788.1:n.925+19A>T
XM_011522487.1:c.680-455A>T	XP_011520789.1:n.680-455A>T
XM_011522488.1:c.676+19A>T	XP_011520790.1:n.676+19A>T
XM_011522489.1:c.677-455A>T	XP_011520791.1:n.677-455A>T
XM_011522490.1:c.673+19A>T	XP_011520792.1:n.673+19A>T
XM_011522491.1:c.925+19A>T	XP_011520793.1:n.925+19A>T
XM_011522492.1:c.631+19A>T	XP_011520794.1:n.631+19A>T
XM_011522493.1:c.628+19A>T	XP_011520795.1:n.628+19A>T
XM_011522494.1:c.559+19A>T	XP_011520796.1:n.559+19A>T
XM_011522495.1:c.485-455A>T	XP_011520797.1:n.485-455A>T
XM_011522496.1:c.482-455A>T	XP_011520798.1:n.482-455A>T
XR_932841.1:n.940+19A>T
XR_932842.1:n.940+19A>T
XR_932843.1:n.940+19A>T
XR_932846.1:n.940+19A>T
XR_932847.1:n.940+19A>T
XR_932848.1:n.632-455A>T
XM_006720880.3:c.925+19A>T	XP_006720943.2:n.925+19A>T
XM_011522484.3:c.925+19A>T	XP_011520786.1:n.925+19A>T
XM_011522485.2:c.925+19A>T	XP_011520787.1:n.925+19A>T
XM_011522486.2:c.925+19A>T	XP_011520788.1:n.925+19A>T
XM_011522487.2:c.680-455A>T	XP_011520789.1:n.680-455A>T
XM_011522488.2:c.676+19A>T	XP_011520790.1:n.676+19A>T
XM_011522489.2:c.677-455A>T	XP_011520791.1:n.677-455A>T
XM_011522490.2:c.673+19A>T	XP_011520792.1:n.673+19A>T
XM_011522491.2:c.925+19A>T	XP_011520793.1:n.925+19A>T
XM_011522492.2:c.631+19A>T	XP_011520794.1:n.631+19A>T
XM_011522493.2:c.628+19A>T	XP_011520795.1:n.628+19A>T
XM_011522494.2:c.559+19A>T	XP_011520796.1:n.559+19A>T
XM_011522495.2:c.485-455A>T	XP_011520797.1:n.485-455A>T
XM_011522496.2:c.482-455A>T	XP_011520798.1:n.482-455A>T
XM_024450280.1:c.871+19A>T	XP_024306048.1:n.871+19A>T
XM_024450281.1:c.725-455A>T	XP_024306049.1:n.725-455A>T
XR_001751904.1:n.944+19A>T
XR_932841.3:n.942+19A>T
XR_932842.2:n.942+19A>T
XR_932846.3:n.944+19A>T
XR_932847.3:n.944+19A>T
NM_001286403.2:c.482-455A>T	NP_001273332.1:n.482-455A>T
NR_104444.2:n.757+19A>T
NM_000246.4:c.628+19A>T MANE Select	NP_000237.2:n.628+19A>T
NM_001379330.1:c.485-455A>T	NP_001366259.1:n.485-455A>T
NM_001379331.1:c.482-455A>T	NP_001366260.1:n.482-455A>T
NM_001379332.1:c.631+19A>T	NP_001366261.1:n.631+19A>T
NM_001379333.1:c.628+19A>T	NP_001366262.1:n.628+19A>T
NM_001379334.1:c.559+19A>T	NP_001366263.1:n.559+19A>T