Canonical Allele Identifier: CA7899798
Community Standard Title: NM_000246.4(CIITA):c.532G>A (p.Asp178Asn)
Gene: CIITA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.10902088G>A , CM000678.2:g.10902088G>A GRCh38
NC_000016.9:g.10995945G>A , CM000678.1:g.10995945G>A GRCh37
NC_000016.8:g.10903446G>A NCBI36
NG_009628.1:g.29891G>A , LRG_49:g.29891G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000246.4:c.532G>A MANE Select NP_000237.2:p.Asp178Asn
ENST00000324288.14:c.532G>A MANE Select ENSP00000316328.8:p.Asp178Asn
NM_000246.3:c.532G>A , LRG_49t1:c.532G>A NP_000237.2:p.Asp178Asn
NM_001286402.1:c.535G>A NP_001273331.1:p.Asp179Asn
NM_001286403.1:c.481+530G>A NP_001273332.1:n.481+530G>A
NM_001286403.2:c.481+530G>A NP_001273332.1:n.481+530G>A
NM_001379330.1:c.484+530G>A NP_001366259.1:n.484+530G>A
NM_001379331.1:c.481+530G>A NP_001366260.1:n.481+530G>A
NM_001379332.1:c.535G>A NP_001366261.1:p.Asp179Asn
NM_001379333.1:c.532G>A NP_001366262.1:p.Asp178Asn
NM_001379334.1:c.463G>A NP_001366263.1:p.Asp155Asn
NR_104444.1:n.665G>A
NR_104444.2:n.661G>A
ENST00000324288.12:c.532G>A ENSP00000316328.8:p.Asp178Asn
ENST00000381835.9:c.481+530G>A ENSP00000371257.5:n.481+530G>A
ENST00000537380.1:n.532G>A
ENST00000570546.5:n.653G>A
ENST00000571186.5:c.*253G>A ENSP00000459829.1:n.*253G>A
ENST00000573309.5:n.599+530G>A
ENST00000576601.1:c.460G>A ENSP00000459608.1:p.Asp154Asn
ENST00000611587.4:c.484+530G>A ENSP00000483487.1:n.484+530G>A
ENST00000618207.4:c.532G>A ENSP00000484761.1:p.Asp178Asn
ENST00000618327.4:c.535G>A ENSP00000485010.1:p.Asp179Asn
ENST00000637439.1:c.766G>A ENSP00000489907.1:p.Asp256Asn
ENST00000695879.1:n.557G>A
XM_006720880.2:c.829G>A XP_006720943.2:p.Asp277Asn
XM_006720880.3:c.829G>A XP_006720943.2:p.Asp277Asn
XM_011522484.1:c.829G>A XP_011520786.1:p.Asp277Asn
XM_011522484.3:c.829G>A XP_011520786.1:p.Asp277Asn
XM_011522485.1:c.829G>A XP_011520787.1:p.Asp277Asn
XM_011522485.2:c.829G>A XP_011520787.1:p.Asp277Asn
XM_011522486.1:c.829G>A XP_011520788.1:p.Asp277Asn
XM_011522486.2:c.829G>A XP_011520788.1:p.Asp277Asn
XM_011522487.1:c.679+530G>A XP_011520789.1:n.679+530G>A
XM_011522487.2:c.679+530G>A XP_011520789.1:n.679+530G>A
XM_011522488.1:c.580G>A XP_011520790.1:p.Asp194Asn
XM_011522488.2:c.580G>A XP_011520790.1:p.Asp194Asn
XM_011522489.1:c.676+530G>A XP_011520791.1:n.676+530G>A
XM_011522489.2:c.676+530G>A XP_011520791.1:n.676+530G>A
XM_011522490.1:c.577G>A XP_011520792.1:p.Asp193Asn
XM_011522490.2:c.577G>A XP_011520792.1:p.Asp193Asn
XM_011522491.1:c.829G>A XP_011520793.1:p.Asp277Asn
XM_011522491.2:c.829G>A XP_011520793.1:p.Asp277Asn
XM_011522492.1:c.535G>A XP_011520794.1:p.Asp179Asn
XM_011522492.2:c.535G>A XP_011520794.1:p.Asp179Asn
XM_011522493.1:c.532G>A XP_011520795.1:p.Asp178Asn
XM_011522493.2:c.532G>A XP_011520795.1:p.Asp178Asn
XM_011522494.1:c.463G>A XP_011520796.1:p.Asp155Asn
XM_011522494.2:c.463G>A XP_011520796.1:p.Asp155Asn
XM_011522495.1:c.484+530G>A XP_011520797.1:n.484+530G>A
XM_011522495.2:c.484+530G>A XP_011520797.1:n.484+530G>A
XM_011522496.1:c.481+530G>A XP_011520798.1:n.481+530G>A
XM_011522496.2:c.481+530G>A XP_011520798.1:n.481+530G>A
XM_024450280.1:c.775G>A XP_024306048.1:p.Asp259Asn
XM_024450281.1:c.724+530G>A XP_024306049.1:n.724+530G>A
XR_001751904.1:n.848G>A
XR_932841.1:n.844G>A
XR_932841.3:n.846G>A
XR_932842.1:n.844G>A
XR_932842.2:n.846G>A
XR_932843.1:n.844G>A
XR_932846.1:n.844G>A
XR_932846.3:n.848G>A
XR_932847.1:n.844G>A
XR_932847.3:n.848G>A
XR_932848.1:n.631+530G>A