Canonical Allele Identifier: CA7900722
Community Standard Title: NM_000246.4(CIITA):c.3197G>A (p.Arg1066His)
Gene: CIITA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.10922214G>A , CM000678.2:g.10922214G>A GRCh38
NC_000016.9:g.11016071G>A , CM000678.1:g.11016071G>A GRCh37
NC_000016.8:g.10923572G>A NCBI36
NG_009628.1:g.50017G>A , LRG_49:g.50017G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000246.4:c.3197G>A MANE Select NP_000237.2:p.Arg1066His
ENST00000324288.14:c.3197G>A MANE Select ENSP00000316328.8:p.Arg1066His
NM_000246.3:c.3197G>A , LRG_49t1:c.3197G>A NP_000237.2:p.Arg1066His
NM_001286402.1:c.3200G>A NP_001273331.1:p.Arg1067His
NM_001286403.1:c.1445G>A NP_001273332.1:p.Arg482His
NM_001286403.2:c.1445G>A NP_001273332.1:p.Arg482His
NM_001379330.1:c.3053G>A NP_001366259.1:p.Arg1018His
NM_001379331.1:c.3050G>A NP_001366260.1:p.Arg1017His
NM_001379332.1:c.3200G>A NP_001366261.1:p.Arg1067His
NM_001379333.1:c.3197G>A NP_001366262.1:p.Arg1066His
NM_001379334.1:c.3128G>A NP_001366263.1:p.Arg1043His
NR_104444.1:n.1520G>A
NR_104444.2:n.1516G>A
ENST00000324288.12:c.3197G>A ENSP00000316328.8:p.Arg1066His
ENST00000381835.9:c.1445G>A ENSP00000371257.5:p.Arg482His
ENST00000570546.5:n.4197G>A
ENST00000618207.4:c.*325G>A ENSP00000484761.1:n.*325G>A
ENST00000618327.4:c.3200G>A ENSP00000485010.1:p.Arg1067His
ENST00000644232.1:c.48G>A
ENST00000646979.1:c.48G>A
XM_006720880.2:c.3494G>A XP_006720943.2:p.Arg1165His
XM_006720880.3:c.3494G>A XP_006720943.2:p.Arg1165His
XM_011522484.1:c.3494G>A XP_011520786.1:p.Arg1165His
XM_011522484.3:c.3494G>A XP_011520786.1:p.Arg1165His
XM_011522485.1:c.3494G>A XP_011520787.1:p.Arg1165His
XM_011522485.2:c.3494G>A XP_011520787.1:p.Arg1165His
XM_011522487.1:c.3248G>A XP_011520789.1:p.Arg1083His
XM_011522487.2:c.3248G>A XP_011520789.1:p.Arg1083His
XM_011522488.1:c.3245G>A XP_011520790.1:p.Arg1082His
XM_011522488.2:c.3245G>A XP_011520790.1:p.Arg1082His
XM_011522489.1:c.3245G>A XP_011520791.1:p.Arg1082His
XM_011522489.2:c.3245G>A XP_011520791.1:p.Arg1082His
XM_011522490.1:c.3242G>A XP_011520792.1:p.Arg1081His
XM_011522490.2:c.3242G>A XP_011520792.1:p.Arg1081His
XM_011522492.1:c.3200G>A XP_011520794.1:p.Arg1067His
XM_011522492.2:c.3200G>A XP_011520794.1:p.Arg1067His
XM_011522493.1:c.3197G>A XP_011520795.1:p.Arg1066His
XM_011522493.2:c.3197G>A XP_011520795.1:p.Arg1066His
XM_011522494.1:c.3128G>A XP_011520796.1:p.Arg1043His
XM_011522494.2:c.3128G>A XP_011520796.1:p.Arg1043His
XM_011522495.1:c.3053G>A XP_011520797.1:p.Arg1018His
XM_011522495.2:c.3053G>A XP_011520797.1:p.Arg1018His
XM_011522496.1:c.3050G>A XP_011520798.1:p.Arg1017His
XM_011522496.2:c.3050G>A XP_011520798.1:p.Arg1017His
XM_024450280.1:c.3440G>A XP_024306048.1:p.Arg1147His
XM_024450281.1:c.3293G>A XP_024306049.1:p.Arg1098His
XR_001751904.1:n.3559G>A
XR_932841.1:n.3509G>A
XR_932841.3:n.3511G>A
XR_932842.1:n.3509G>A
XR_932842.2:n.3511G>A
XR_932843.1:n.3509G>A
XR_932846.1:n.3555G>A
XR_932846.3:n.3559G>A
XR_932848.1:n.1595G>A