Canonical Allele Identifier: CA7900310
Community Standard Title: NM_000246.4(CIITA):c.2163G>A (p.Trp721Ter)
Gene: CIITA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.10907655G>A , CM000678.2:g.10907655G>A GRCh38
NC_000016.9:g.11001512G>A , CM000678.1:g.11001512G>A GRCh37
NC_000016.8:g.10909013G>A NCBI36
NG_009628.1:g.35458G>A , LRG_49:g.35458G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000246.4:c.2163G>A MANE Select NP_000237.2:p.Trp721Ter
ENST00000324288.14:c.2163G>A MANE Select ENSP00000316328.8:p.Trp721Ter
NM_000246.3:c.2163G>A , LRG_49t1:c.2163G>A NP_000237.2:p.Trp721Ter
NM_001286402.1:c.2166G>A NP_001273331.1:p.Trp722Ter
NM_001286403.1:c.860-1328G>A NP_001273332.1:n.860-1328G>A
NM_001286403.2:c.860-1328G>A NP_001273332.1:n.860-1328G>A
NM_001379330.1:c.2019G>A NP_001366259.1:p.Trp673Ter
NM_001379331.1:c.2016G>A NP_001366260.1:p.Trp672Ter
NM_001379332.1:c.2166G>A NP_001366261.1:p.Trp722Ter
NM_001379333.1:c.2163G>A NP_001366262.1:p.Trp721Ter
NM_001379334.1:c.2094G>A NP_001366263.1:p.Trp698Ter
NR_104444.1:n.1140-2533G>A
NR_104444.2:n.1136-2533G>A
ENST00000324288.12:c.2163G>A ENSP00000316328.8:p.Trp721Ter
ENST00000381835.9:c.860-1328G>A ENSP00000371257.5:n.860-1328G>A
ENST00000537380.1:n.1007-2533G>A
ENST00000570546.5:n.2284G>A
ENST00000573309.5:n.2134G>A
ENST00000611587.4:c.2019G>A ENSP00000483487.1:p.Trp673Ter
ENST00000618207.4:c.1007-2533G>A ENSP00000484761.1:n.1007-2533G>A
ENST00000618327.4:c.2166G>A ENSP00000485010.1:p.Trp722Ter
ENST00000695879.1:n.2057G>A
XM_006720880.2:c.2460G>A XP_006720943.2:p.Trp820Ter
XM_006720880.3:c.2460G>A XP_006720943.2:p.Trp820Ter
XM_011522484.1:c.2460G>A XP_011520786.1:p.Trp820Ter
XM_011522484.3:c.2460G>A XP_011520786.1:p.Trp820Ter
XM_011522485.1:c.2460G>A XP_011520787.1:p.Trp820Ter
XM_011522485.2:c.2460G>A XP_011520787.1:p.Trp820Ter
XM_011522486.1:c.2460G>A XP_011520788.1:p.Trp820Ter
XM_011522486.2:c.2460G>A XP_011520788.1:p.Trp820Ter
XM_011522487.1:c.2214G>A XP_011520789.1:p.Trp738Ter
XM_011522487.2:c.2214G>A XP_011520789.1:p.Trp738Ter
XM_011522488.1:c.2211G>A XP_011520790.1:p.Trp737Ter
XM_011522488.2:c.2211G>A XP_011520790.1:p.Trp737Ter
XM_011522489.1:c.2211G>A XP_011520791.1:p.Trp737Ter
XM_011522489.2:c.2211G>A XP_011520791.1:p.Trp737Ter
XM_011522490.1:c.2208G>A XP_011520792.1:p.Trp736Ter
XM_011522490.2:c.2208G>A XP_011520792.1:p.Trp736Ter
XM_011522491.1:c.2460G>A XP_011520793.1:p.Trp820Ter
XM_011522491.2:c.2460G>A XP_011520793.1:p.Trp820Ter
XM_011522492.1:c.2166G>A XP_011520794.1:p.Trp722Ter
XM_011522492.2:c.2166G>A XP_011520794.1:p.Trp722Ter
XM_011522493.1:c.2163G>A XP_011520795.1:p.Trp721Ter
XM_011522493.2:c.2163G>A XP_011520795.1:p.Trp721Ter
XM_011522494.1:c.2094G>A XP_011520796.1:p.Trp698Ter
XM_011522494.2:c.2094G>A XP_011520796.1:p.Trp698Ter
XM_011522495.1:c.2019G>A XP_011520797.1:p.Trp673Ter
XM_011522495.2:c.2019G>A XP_011520797.1:p.Trp673Ter
XM_011522496.1:c.2016G>A XP_011520798.1:p.Trp672Ter
XM_011522496.2:c.2016G>A XP_011520798.1:p.Trp672Ter
XM_024450280.1:c.2406G>A XP_024306048.1:p.Trp802Ter
XM_024450281.1:c.2259G>A XP_024306049.1:p.Trp753Ter
XR_001751904.1:n.2479G>A
XR_932841.1:n.2475G>A
XR_932841.3:n.2477G>A
XR_932842.1:n.2475G>A
XR_932842.2:n.2477G>A
XR_932843.1:n.2475G>A
XR_932846.1:n.2475G>A
XR_932846.3:n.2479G>A
XR_932847.1:n.2475G>A
XR_932847.3:n.2479G>A
XR_932848.1:n.1010-1328G>A