Canonical Allele Identifier: CA394728963
Community Standard Title: NM_000246.4(CIITA):c.772+1G>T
Gene: CIITA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.10902802G>T , CM000678.2:g.10902802G>T GRCh38
NC_000016.9:g.10996659G>T , CM000678.1:g.10996659G>T GRCh37
NC_000016.8:g.10904160G>T NCBI36
NG_009628.1:g.30605G>T , LRG_49:g.30605G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000246.4:c.772+1G>T MANE Select NP_000237.2:n.772+1G>T
ENST00000324288.14:c.772+1G>T MANE Select ENSP00000316328.8:n.772+1G>T
NM_000246.3:c.772+1G>T , LRG_49t1:c.772+1G>T NP_000237.2:n.772+1G>T
NM_001286402.1:c.775+1G>T NP_001273331.1:n.775+1G>T
NM_001286403.1:c.625+1G>T NP_001273332.1:n.625+1G>T
NM_001286403.2:c.625+1G>T NP_001273332.1:n.625+1G>T
NM_001379330.1:c.628+1G>T NP_001366259.1:n.628+1G>T
NM_001379331.1:c.625+1G>T NP_001366260.1:n.625+1G>T
NM_001379332.1:c.775+1G>T NP_001366261.1:n.775+1G>T
NM_001379333.1:c.772+1G>T NP_001366262.1:n.772+1G>T
NM_001379334.1:c.703+1G>T NP_001366263.1:n.703+1G>T
NR_104444.1:n.905+1G>T
NR_104444.2:n.901+1G>T
ENST00000324288.12:c.772+1G>T ENSP00000316328.8:n.772+1G>T
ENST00000381835.9:c.625+1G>T ENSP00000371257.5:n.625+1G>T
ENST00000537380.1:n.772+1G>T
ENST00000570546.5:n.893+1G>T
ENST00000573309.5:n.743+1G>T
ENST00000611587.4:c.628+1G>T ENSP00000483487.1:n.628+1G>T
ENST00000618207.4:c.772+1G>T ENSP00000484761.1:n.772+1G>T
ENST00000618327.4:c.775+1G>T ENSP00000485010.1:n.775+1G>T
ENST00000695879.1:n.797+1G>T
XM_006720880.2:c.1069+1G>T XP_006720943.2:n.1069+1G>T
XM_006720880.3:c.1069+1G>T XP_006720943.2:n.1069+1G>T
XM_011522484.1:c.1069+1G>T XP_011520786.1:n.1069+1G>T
XM_011522484.3:c.1069+1G>T XP_011520786.1:n.1069+1G>T
XM_011522485.1:c.1069+1G>T XP_011520787.1:n.1069+1G>T
XM_011522485.2:c.1069+1G>T XP_011520787.1:n.1069+1G>T
XM_011522486.1:c.1069+1G>T XP_011520788.1:n.1069+1G>T
XM_011522486.2:c.1069+1G>T XP_011520788.1:n.1069+1G>T
XM_011522487.1:c.823+1G>T XP_011520789.1:n.823+1G>T
XM_011522487.2:c.823+1G>T XP_011520789.1:n.823+1G>T
XM_011522488.1:c.820+1G>T XP_011520790.1:n.820+1G>T
XM_011522488.2:c.820+1G>T XP_011520790.1:n.820+1G>T
XM_011522489.1:c.820+1G>T XP_011520791.1:n.820+1G>T
XM_011522489.2:c.820+1G>T XP_011520791.1:n.820+1G>T
XM_011522490.1:c.817+1G>T XP_011520792.1:n.817+1G>T
XM_011522490.2:c.817+1G>T XP_011520792.1:n.817+1G>T
XM_011522491.1:c.1069+1G>T XP_011520793.1:n.1069+1G>T
XM_011522491.2:c.1069+1G>T XP_011520793.1:n.1069+1G>T
XM_011522492.1:c.775+1G>T XP_011520794.1:n.775+1G>T
XM_011522492.2:c.775+1G>T XP_011520794.1:n.775+1G>T
XM_011522493.1:c.772+1G>T XP_011520795.1:n.772+1G>T
XM_011522493.2:c.772+1G>T XP_011520795.1:n.772+1G>T
XM_011522494.1:c.703+1G>T XP_011520796.1:n.703+1G>T
XM_011522494.2:c.703+1G>T XP_011520796.1:n.703+1G>T
XM_011522495.1:c.628+1G>T XP_011520797.1:n.628+1G>T
XM_011522495.2:c.628+1G>T XP_011520797.1:n.628+1G>T
XM_011522496.1:c.625+1G>T XP_011520798.1:n.625+1G>T
XM_011522496.2:c.625+1G>T XP_011520798.1:n.625+1G>T
XM_024450280.1:c.1015+1G>T XP_024306048.1:n.1015+1G>T
XM_024450281.1:c.868+1G>T XP_024306049.1:n.868+1G>T
XR_001751904.1:n.1088+1G>T
XR_932841.1:n.1084+1G>T
XR_932841.3:n.1086+1G>T
XR_932842.1:n.1084+1G>T
XR_932842.2:n.1086+1G>T
XR_932843.1:n.1084+1G>T
XR_932846.1:n.1084+1G>T
XR_932846.3:n.1088+1G>T
XR_932847.1:n.1084+1G>T
XR_932847.3:n.1088+1G>T
XR_932848.1:n.775+1G>T