Canonical Allele Identifier: CA394732316
Community Standard Title: NM_000246.4(CIITA):c.2064G>A (p.Trp688Ter)
Gene: CIITA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.10907556G>A , CM000678.2:g.10907556G>A GRCh38
NC_000016.9:g.11001413G>A , CM000678.1:g.11001413G>A GRCh37
NC_000016.8:g.10908914G>A NCBI36
NG_009628.1:g.35359G>A , LRG_49:g.35359G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000246.4:c.2064G>A MANE Select NP_000237.2:p.Trp688Ter
ENST00000324288.14:c.2064G>A MANE Select ENSP00000316328.8:p.Trp688Ter
NM_000246.3:c.2064G>A , LRG_49t1:c.2064G>A NP_000237.2:p.Trp688Ter
NM_001286402.1:c.2067G>A NP_001273331.1:p.Trp689Ter
NM_001286403.1:c.860-1427G>A NP_001273332.1:n.860-1427G>A
NM_001286403.2:c.860-1427G>A NP_001273332.1:n.860-1427G>A
NM_001379330.1:c.1920G>A NP_001366259.1:p.Trp640Ter
NM_001379331.1:c.1917G>A NP_001366260.1:p.Trp639Ter
NM_001379332.1:c.2067G>A NP_001366261.1:p.Trp689Ter
NM_001379333.1:c.2064G>A NP_001366262.1:p.Trp688Ter
NM_001379334.1:c.1995G>A NP_001366263.1:p.Trp665Ter
NR_104444.1:n.1140-2632G>A
NR_104444.2:n.1136-2632G>A
ENST00000324288.12:c.2064G>A ENSP00000316328.8:p.Trp688Ter
ENST00000381835.9:c.860-1427G>A ENSP00000371257.5:n.860-1427G>A
ENST00000537380.1:n.1007-2632G>A
ENST00000570546.5:n.2185G>A
ENST00000573309.5:n.2035G>A
ENST00000611587.4:c.1920G>A ENSP00000483487.1:p.Trp640Ter
ENST00000618207.4:c.1007-2632G>A ENSP00000484761.1:n.1007-2632G>A
ENST00000618327.4:c.2067G>A ENSP00000485010.1:p.Trp689Ter
ENST00000695879.1:n.1958G>A
XM_006720880.2:c.2361G>A XP_006720943.2:p.Trp787Ter
XM_006720880.3:c.2361G>A XP_006720943.2:p.Trp787Ter
XM_011522484.1:c.2361G>A XP_011520786.1:p.Trp787Ter
XM_011522484.3:c.2361G>A XP_011520786.1:p.Trp787Ter
XM_011522485.1:c.2361G>A XP_011520787.1:p.Trp787Ter
XM_011522485.2:c.2361G>A XP_011520787.1:p.Trp787Ter
XM_011522486.1:c.2361G>A XP_011520788.1:p.Trp787Ter
XM_011522486.2:c.2361G>A XP_011520788.1:p.Trp787Ter
XM_011522487.1:c.2115G>A XP_011520789.1:p.Trp705Ter
XM_011522487.2:c.2115G>A XP_011520789.1:p.Trp705Ter
XM_011522488.1:c.2112G>A XP_011520790.1:p.Trp704Ter
XM_011522488.2:c.2112G>A XP_011520790.1:p.Trp704Ter
XM_011522489.1:c.2112G>A XP_011520791.1:p.Trp704Ter
XM_011522489.2:c.2112G>A XP_011520791.1:p.Trp704Ter
XM_011522490.1:c.2109G>A XP_011520792.1:p.Trp703Ter
XM_011522490.2:c.2109G>A XP_011520792.1:p.Trp703Ter
XM_011522491.1:c.2361G>A XP_011520793.1:p.Trp787Ter
XM_011522491.2:c.2361G>A XP_011520793.1:p.Trp787Ter
XM_011522492.1:c.2067G>A XP_011520794.1:p.Trp689Ter
XM_011522492.2:c.2067G>A XP_011520794.1:p.Trp689Ter
XM_011522493.1:c.2064G>A XP_011520795.1:p.Trp688Ter
XM_011522493.2:c.2064G>A XP_011520795.1:p.Trp688Ter
XM_011522494.1:c.1995G>A XP_011520796.1:p.Trp665Ter
XM_011522494.2:c.1995G>A XP_011520796.1:p.Trp665Ter
XM_011522495.1:c.1920G>A XP_011520797.1:p.Trp640Ter
XM_011522495.2:c.1920G>A XP_011520797.1:p.Trp640Ter
XM_011522496.1:c.1917G>A XP_011520798.1:p.Trp639Ter
XM_011522496.2:c.1917G>A XP_011520798.1:p.Trp639Ter
XM_024450280.1:c.2307G>A XP_024306048.1:p.Trp769Ter
XM_024450281.1:c.2160G>A XP_024306049.1:p.Trp720Ter
XR_001751904.1:n.2380G>A
XR_932841.1:n.2376G>A
XR_932841.3:n.2378G>A
XR_932842.1:n.2376G>A
XR_932842.2:n.2378G>A
XR_932843.1:n.2376G>A
XR_932846.1:n.2376G>A
XR_932846.3:n.2380G>A
XR_932847.1:n.2376G>A
XR_932847.3:n.2380G>A
XR_932848.1:n.1010-1427G>A