Canonical Allele Identifier: CA212922
Gene: CIITA HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.10922491G>A , CM000678.2:g.10922491G>A GRCh38
NC_000016.9:g.11016348G>A , CM000678.1:g.11016348G>A GRCh37
NC_000016.8:g.10923849G>A NCBI36
NG_009628.1:g.50294G>A , LRG_49:g.50294G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000324288.14:c.3317+1G>A MANE Select ENSP00000316328.8:n.3317+1G>A
ENST00000644232.1:c.168+1G>A
ENST00000646979.1:c.168+1G>A
ENST00000324288.12:c.3317+1G>A ENSP00000316328.8:n.3317+1G>A
ENST00000381835.9:c.1565+1G>A ENSP00000371257.5:n.1565+1G>A
ENST00000570546.5:n.4317+1G>A
ENST00000618207.4:c.*445+1G>A ENSP00000484761.1:n.*445+1G>A
ENST00000618327.4:c.3320+1G>A ENSP00000485010.1:n.3320+1G>A
NM_000246.3:c.3317+1G>A , LRG_49t1:c.3317+1G>A NP_000237.2:n.3317+1G>A
NM_001286402.1:c.3320+1G>A NP_001273331.1:n.3320+1G>A
NM_001286403.1:c.1565+1G>A NP_001273332.1:n.1565+1G>A
NR_104444.1:n.1640+1G>A
XM_006720880.2:c.3614+1G>A XP_006720943.2:n.3614+1G>A
XM_011522484.1:c.3614+1G>A XP_011520786.1:n.3614+1G>A
XM_011522485.1:c.3614+1G>A XP_011520787.1:n.3614+1G>A
XM_011522487.1:c.3368+1G>A XP_011520789.1:n.3368+1G>A
XM_011522488.1:c.3365+1G>A XP_011520790.1:n.3365+1G>A
XM_011522489.1:c.3365+1G>A XP_011520791.1:n.3365+1G>A
XM_011522490.1:c.3362+1G>A XP_011520792.1:n.3362+1G>A
XM_011522492.1:c.3320+1G>A XP_011520794.1:n.3320+1G>A
XM_011522493.1:c.3317+1G>A XP_011520795.1:n.3317+1G>A
XM_011522494.1:c.3248+1G>A XP_011520796.1:n.3248+1G>A
XM_011522495.1:c.3173+1G>A XP_011520797.1:n.3173+1G>A
XM_011522496.1:c.3170+1G>A XP_011520798.1:n.3170+1G>A
XR_932841.1:n.3629+1G>A
XR_932842.1:n.3629+1G>A
XR_932843.1:n.3629+1G>A
XR_932846.1:n.3675+1G>A
XR_932848.1:n.1715+1G>A
XM_006720880.3:c.3614+1G>A XP_006720943.2:n.3614+1G>A
XM_011522484.3:c.3614+1G>A XP_011520786.1:n.3614+1G>A
XM_011522485.2:c.3614+1G>A XP_011520787.1:n.3614+1G>A
XM_011522487.2:c.3368+1G>A XP_011520789.1:n.3368+1G>A
XM_011522488.2:c.3365+1G>A XP_011520790.1:n.3365+1G>A
XM_011522489.2:c.3365+1G>A XP_011520791.1:n.3365+1G>A
XM_011522490.2:c.3362+1G>A XP_011520792.1:n.3362+1G>A
XM_011522492.2:c.3320+1G>A XP_011520794.1:n.3320+1G>A
XM_011522493.2:c.3317+1G>A XP_011520795.1:n.3317+1G>A
XM_011522494.2:c.3248+1G>A XP_011520796.1:n.3248+1G>A
XM_011522495.2:c.3173+1G>A XP_011520797.1:n.3173+1G>A
XM_011522496.2:c.3170+1G>A XP_011520798.1:n.3170+1G>A
XM_024450280.1:c.3560+1G>A XP_024306048.1:n.3560+1G>A
XM_024450281.1:c.3413+1G>A XP_024306049.1:n.3413+1G>A
XR_001751904.1:n.3679+1G>A
XR_932841.3:n.3631+1G>A
XR_932842.2:n.3631+1G>A
XR_932846.3:n.3679+1G>A
NM_001286403.2:c.1565+1G>A NP_001273332.1:n.1565+1G>A
NR_104444.2:n.1636+1G>A
NM_000246.4:c.3317+1G>A MANE Select NP_000237.2:n.3317+1G>A
NM_001379330.1:c.3173+1G>A NP_001366259.1:n.3173+1G>A
NM_001379331.1:c.3170+1G>A NP_001366260.1:n.3170+1G>A
NM_001379332.1:c.3320+1G>A NP_001366261.1:n.3320+1G>A
NM_001379333.1:c.3317+1G>A NP_001366262.1:n.3317+1G>A
NM_001379334.1:c.3248+1G>A NP_001366263.1:n.3248+1G>A