Canonical Allele Identifier: CA7899976
Community Standard Title: NM_000246.4(CIITA):c.948G>A (p.Thr316=)
Gene: CIITA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.10904754G>A , CM000678.2:g.10904754G>A GRCh38
NC_000016.9:g.10998611G>A , CM000678.1:g.10998611G>A GRCh37
NC_000016.8:g.10906112G>A NCBI36
NG_009628.1:g.32557G>A , LRG_49:g.32557G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000246.4:c.948G>A MANE Select NP_000237.2:p.Thr316=
ENST00000324288.14:c.948G>A MANE Select ENSP00000316328.8:p.Thr316=
NM_000246.3:c.948G>A , LRG_49t1:c.948G>A NP_000237.2:p.Thr316=
NM_001286402.1:c.951G>A NP_001273331.1:p.Thr317=
NM_001286403.1:c.801G>A NP_001273332.1:p.Thr267=
NM_001286403.2:c.801G>A NP_001273332.1:p.Thr267=
NM_001379330.1:c.804G>A NP_001366259.1:p.Thr268=
NM_001379331.1:c.801G>A NP_001366260.1:p.Thr267=
NM_001379332.1:c.951G>A NP_001366261.1:p.Thr317=
NM_001379333.1:c.948G>A NP_001366262.1:p.Thr316=
NM_001379334.1:c.879G>A NP_001366263.1:p.Thr293=
NR_104444.1:n.1081G>A
NR_104444.2:n.1077G>A
ENST00000324288.12:c.948G>A ENSP00000316328.8:p.Thr316=
ENST00000381835.9:c.801G>A ENSP00000371257.5:p.Thr267=
ENST00000537380.1:n.948G>A
ENST00000570546.5:n.1069G>A
ENST00000573309.5:n.919G>A
ENST00000611587.4:c.804G>A ENSP00000483487.1:p.Thr268=
ENST00000618207.4:c.948G>A ENSP00000484761.1:p.Thr316=
ENST00000618327.4:c.951G>A ENSP00000485010.1:p.Thr317=
ENST00000695879.1:n.973G>A
XM_006720880.2:c.1245G>A XP_006720943.2:p.Thr415=
XM_006720880.3:c.1245G>A XP_006720943.2:p.Thr415=
XM_011522484.1:c.1245G>A XP_011520786.1:p.Thr415=
XM_011522484.3:c.1245G>A XP_011520786.1:p.Thr415=
XM_011522485.1:c.1245G>A XP_011520787.1:p.Thr415=
XM_011522485.2:c.1245G>A XP_011520787.1:p.Thr415=
XM_011522486.1:c.1245G>A XP_011520788.1:p.Thr415=
XM_011522486.2:c.1245G>A XP_011520788.1:p.Thr415=
XM_011522487.1:c.999G>A XP_011520789.1:p.Thr333=
XM_011522487.2:c.999G>A XP_011520789.1:p.Thr333=
XM_011522488.1:c.996G>A XP_011520790.1:p.Thr332=
XM_011522488.2:c.996G>A XP_011520790.1:p.Thr332=
XM_011522489.1:c.996G>A XP_011520791.1:p.Thr332=
XM_011522489.2:c.996G>A XP_011520791.1:p.Thr332=
XM_011522490.1:c.993G>A XP_011520792.1:p.Thr331=
XM_011522490.2:c.993G>A XP_011520792.1:p.Thr331=
XM_011522491.1:c.1245G>A XP_011520793.1:p.Thr415=
XM_011522491.2:c.1245G>A XP_011520793.1:p.Thr415=
XM_011522492.1:c.951G>A XP_011520794.1:p.Thr317=
XM_011522492.2:c.951G>A XP_011520794.1:p.Thr317=
XM_011522493.1:c.948G>A XP_011520795.1:p.Thr316=
XM_011522493.2:c.948G>A XP_011520795.1:p.Thr316=
XM_011522494.1:c.879G>A XP_011520796.1:p.Thr293=
XM_011522494.2:c.879G>A XP_011520796.1:p.Thr293=
XM_011522495.1:c.804G>A XP_011520797.1:p.Thr268=
XM_011522495.2:c.804G>A XP_011520797.1:p.Thr268=
XM_011522496.1:c.801G>A XP_011520798.1:p.Thr267=
XM_011522496.2:c.801G>A XP_011520798.1:p.Thr267=
XM_024450280.1:c.1191G>A XP_024306048.1:p.Thr397=
XM_024450281.1:c.1044G>A XP_024306049.1:p.Thr348=
XR_001751904.1:n.1264G>A
XR_932841.1:n.1260G>A
XR_932841.3:n.1262G>A
XR_932842.1:n.1260G>A
XR_932842.2:n.1262G>A
XR_932843.1:n.1260G>A
XR_932846.1:n.1260G>A
XR_932846.3:n.1264G>A
XR_932847.1:n.1260G>A
XR_932847.3:n.1264G>A
XR_932848.1:n.951G>A