Canonical Allele Identifier: CA7900800
Community Standard Title: NM_000246.4(CIITA):c.3357C>T (p.His1119=)
Gene: CIITA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.10923267C>T , CM000678.2:g.10923267C>T GRCh38
NC_000016.9:g.11017124C>T , CM000678.1:g.11017124C>T GRCh37
NC_000016.8:g.10924625C>T NCBI36
NG_009628.1:g.51070C>T , LRG_49:g.51070C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000246.4:c.3357C>T MANE Select NP_000237.2:p.His1119=
ENST00000324288.14:c.3357C>T MANE Select ENSP00000316328.8:p.His1119=
NM_000246.3:c.3357C>T , LRG_49t1:c.3357C>T NP_000237.2:p.His1119=
NM_001286402.1:c.3360C>T NP_001273331.1:p.His1120=
NM_001286403.1:c.1605C>T NP_001273332.1:p.His535=
NM_001286403.2:c.1605C>T NP_001273332.1:p.His535=
NM_001379330.1:c.3213C>T NP_001366259.1:p.His1071=
NM_001379331.1:c.3210C>T NP_001366260.1:p.His1070=
NM_001379332.1:c.3360C>T NP_001366261.1:p.His1120=
NM_001379333.1:c.3357C>T NP_001366262.1:p.His1119=
NM_001379334.1:c.3288C>T NP_001366263.1:p.His1096=
NR_104444.1:n.1680C>T
NR_104444.2:n.1676C>T
ENST00000324288.12:c.3357C>T ENSP00000316328.8:p.His1119=
ENST00000381835.9:c.1605C>T ENSP00000371257.5:p.His535=
ENST00000570546.5:n.4357C>T
ENST00000575513.1:n.343C>T
ENST00000618207.4:c.*485C>T ENSP00000484761.1:n.*485C>T
ENST00000618327.4:c.3360C>T ENSP00000485010.1:p.His1120=
ENST00000644232.1:c.208C>T
ENST00000646979.1:c.208C>T
XM_006720880.2:c.3654C>T XP_006720943.2:p.His1218=
XM_006720880.3:c.3654C>T XP_006720943.2:p.His1218=
XM_011522484.1:c.3654C>T XP_011520786.1:p.His1218=
XM_011522484.3:c.3654C>T XP_011520786.1:p.His1218=
XM_011522485.1:c.3654C>T XP_011520787.1:p.His1218=
XM_011522485.2:c.3654C>T XP_011520787.1:p.His1218=
XM_011522487.1:c.3408C>T XP_011520789.1:p.His1136=
XM_011522487.2:c.3408C>T XP_011520789.1:p.His1136=
XM_011522488.1:c.3405C>T XP_011520790.1:p.His1135=
XM_011522488.2:c.3405C>T XP_011520790.1:p.His1135=
XM_011522489.1:c.3405C>T XP_011520791.1:p.His1135=
XM_011522489.2:c.3405C>T XP_011520791.1:p.His1135=
XM_011522490.1:c.3402C>T XP_011520792.1:p.His1134=
XM_011522490.2:c.3402C>T XP_011520792.1:p.His1134=
XM_011522492.1:c.3360C>T XP_011520794.1:p.His1120=
XM_011522492.2:c.3360C>T XP_011520794.1:p.His1120=
XM_011522493.1:c.3357C>T XP_011520795.1:p.His1119=
XM_011522493.2:c.3357C>T XP_011520795.1:p.His1119=
XM_011522494.1:c.3288C>T XP_011520796.1:p.His1096=
XM_011522494.2:c.3288C>T XP_011520796.1:p.His1096=
XM_011522495.1:c.3213C>T XP_011520797.1:p.His1071=
XM_011522495.2:c.3213C>T XP_011520797.1:p.His1071=
XM_011522496.1:c.3210C>T XP_011520798.1:p.His1070=
XM_011522496.2:c.3210C>T XP_011520798.1:p.His1070=
XM_024450280.1:c.3600C>T XP_024306048.1:p.His1200=
XM_024450281.1:c.3453C>T XP_024306049.1:p.His1151=
XR_001751904.1:n.3719C>T
XR_932841.1:n.3669C>T
XR_932841.3:n.3671C>T
XR_932842.1:n.3669C>T
XR_932842.2:n.3671C>T
XR_932843.1:n.3669C>T
XR_932846.1:n.3715C>T
XR_932846.3:n.3719C>T
XR_932848.1:n.1755C>T