Canonical Allele Identifier: CA394728371
Gene: CIITA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.10902142G>T , CM000678.2:g.10902142G>T GRCh38
NC_000016.9:g.10995999G>T , CM000678.1:g.10995999G>T GRCh37
NC_000016.8:g.10903500G>T NCBI36
NG_009628.1:g.29945G>T , LRG_49:g.29945G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695879.1:n.611G>T
ENST00000324288.14:c.586G>T MANE Select ENSP00000316328.8:p.Ala196Ser
ENST00000324288.12:c.586G>T ENSP00000316328.8:p.Ala196Ser
ENST00000381835.9:c.482-516G>T ENSP00000371257.5:n.482-516G>T
ENST00000537380.1:n.586G>T
ENST00000570546.5:n.707G>T
ENST00000571186.5:c.*307G>T ENSP00000459829.1:n.*307G>T
ENST00000573309.5:n.600-516G>T
ENST00000576601.1:c.514G>T ENSP00000459608.1:p.Ala172Ser
ENST00000611587.4:c.485-516G>T ENSP00000483487.1:n.485-516G>T
ENST00000618207.4:c.586G>T ENSP00000484761.1:p.Ala196Ser
ENST00000618327.4:c.589G>T ENSP00000485010.1:p.Ala197Ser
NM_000246.3:c.586G>T , LRG_49t1:c.586G>T NP_000237.2:p.Ala196Ser
NM_001286402.1:c.589G>T NP_001273331.1:p.Ala197Ser
NM_001286403.1:c.482-516G>T NP_001273332.1:n.482-516G>T
NR_104444.1:n.719G>T
XM_006720880.2:c.883G>T XP_006720943.2:p.Ala295Ser
XM_011522484.1:c.883G>T XP_011520786.1:p.Ala295Ser
XM_011522485.1:c.883G>T XP_011520787.1:p.Ala295Ser
XM_011522486.1:c.883G>T XP_011520788.1:p.Ala295Ser
XM_011522487.1:c.680-516G>T XP_011520789.1:n.680-516G>T
XM_011522488.1:c.634G>T XP_011520790.1:p.Ala212Ser
XM_011522489.1:c.677-516G>T XP_011520791.1:n.677-516G>T
XM_011522490.1:c.631G>T XP_011520792.1:p.Ala211Ser
XM_011522491.1:c.883G>T XP_011520793.1:p.Ala295Ser
XM_011522492.1:c.589G>T XP_011520794.1:p.Ala197Ser
XM_011522493.1:c.586G>T XP_011520795.1:p.Ala196Ser
XM_011522494.1:c.517G>T XP_011520796.1:p.Ala173Ser
XM_011522495.1:c.485-516G>T XP_011520797.1:n.485-516G>T
XM_011522496.1:c.482-516G>T XP_011520798.1:n.482-516G>T
XR_932841.1:n.898G>T
XR_932842.1:n.898G>T
XR_932843.1:n.898G>T
XR_932846.1:n.898G>T
XR_932847.1:n.898G>T
XR_932848.1:n.632-516G>T
XM_006720880.3:c.883G>T XP_006720943.2:p.Ala295Ser
XM_011522484.3:c.883G>T XP_011520786.1:p.Ala295Ser
XM_011522485.2:c.883G>T XP_011520787.1:p.Ala295Ser
XM_011522486.2:c.883G>T XP_011520788.1:p.Ala295Ser
XM_011522487.2:c.680-516G>T XP_011520789.1:n.680-516G>T
XM_011522488.2:c.634G>T XP_011520790.1:p.Ala212Ser
XM_011522489.2:c.677-516G>T XP_011520791.1:n.677-516G>T
XM_011522490.2:c.631G>T XP_011520792.1:p.Ala211Ser
XM_011522491.2:c.883G>T XP_011520793.1:p.Ala295Ser
XM_011522492.2:c.589G>T XP_011520794.1:p.Ala197Ser
XM_011522493.2:c.586G>T XP_011520795.1:p.Ala196Ser
XM_011522494.2:c.517G>T XP_011520796.1:p.Ala173Ser
XM_011522495.2:c.485-516G>T XP_011520797.1:n.485-516G>T
XM_011522496.2:c.482-516G>T XP_011520798.1:n.482-516G>T
XM_024450280.1:c.829G>T XP_024306048.1:p.Ala277Ser
XM_024450281.1:c.725-516G>T XP_024306049.1:n.725-516G>T
XR_001751904.1:n.902G>T
XR_932841.3:n.900G>T
XR_932842.2:n.900G>T
XR_932846.3:n.902G>T
XR_932847.3:n.902G>T
NM_001286403.2:c.482-516G>T NP_001273332.1:n.482-516G>T
NR_104444.2:n.715G>T
NM_000246.4:c.586G>T MANE Select NP_000237.2:p.Ala196Ser
NM_001379330.1:c.485-516G>T NP_001366259.1:n.485-516G>T
NM_001379331.1:c.482-516G>T NP_001366260.1:n.482-516G>T
NM_001379332.1:c.589G>T NP_001366261.1:p.Ala197Ser
NM_001379333.1:c.586G>T NP_001366262.1:p.Ala196Ser
NM_001379334.1:c.517G>T NP_001366263.1:p.Ala173Ser