Canonical Allele Identifier: CA394730054

Gene: CIITA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10906732C>T , CM000678.2:g.10906732C>T	GRCh38
NC_000016.9:g.11000589C>T , CM000678.1:g.11000589C>T	GRCh37
NC_000016.8:g.10908090C>T	NCBI36
NG_009628.1:g.34535C>T , LRG_49:g.34535C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000246.4:c.1240C>T MANE Select	NP_000237.2:p.Arg414Ter
ENST00000324288.14:c.1240C>T MANE Select	ENSP00000316328.8:p.Arg414Ter
NM_000246.3:c.1240C>T , LRG_49t1:c.1240C>T	NP_000237.2:p.Arg414Ter
NM_001286402.1:c.1243C>T	NP_001273331.1:p.Arg415Ter
NM_001286403.1:c.859+1920C>T	NP_001273332.1:n.859+1920C>T
NM_001286403.2:c.859+1920C>T	NP_001273332.1:n.859+1920C>T
NM_001379330.1:c.1096C>T	NP_001366259.1:p.Arg366Ter
NM_001379331.1:c.1093C>T	NP_001366260.1:p.Arg365Ter
NM_001379332.1:c.1243C>T	NP_001366261.1:p.Arg415Ter
NM_001379333.1:c.1240C>T	NP_001366262.1:p.Arg414Ter
NM_001379334.1:c.1171C>T	NP_001366263.1:p.Arg391Ter
NR_104444.1:n.1139+1920C>T
NR_104444.2:n.1135+1920C>T
ENST00000324288.12:c.1240C>T	ENSP00000316328.8:p.Arg414Ter
ENST00000381835.9:c.859+1920C>T	ENSP00000371257.5:n.859+1920C>T
ENST00000537380.1:n.1006+1920C>T
ENST00000570546.5:n.1361C>T
ENST00000573309.5:n.1211C>T
ENST00000611587.4:c.1096C>T	ENSP00000483487.1:p.Arg366Ter
ENST00000618207.4:c.1006+1920C>T	ENSP00000484761.1:n.1006+1920C>T
ENST00000618327.4:c.1243C>T	ENSP00000485010.1:p.Arg415Ter
ENST00000695879.1:n.1265C>T
XM_006720880.2:c.1537C>T	XP_006720943.2:p.Arg513Ter
XM_006720880.3:c.1537C>T	XP_006720943.2:p.Arg513Ter
XM_011522484.1:c.1537C>T	XP_011520786.1:p.Arg513Ter
XM_011522484.3:c.1537C>T	XP_011520786.1:p.Arg513Ter
XM_011522485.1:c.1537C>T	XP_011520787.1:p.Arg513Ter
XM_011522485.2:c.1537C>T	XP_011520787.1:p.Arg513Ter
XM_011522486.1:c.1537C>T	XP_011520788.1:p.Arg513Ter
XM_011522486.2:c.1537C>T	XP_011520788.1:p.Arg513Ter
XM_011522487.1:c.1291C>T	XP_011520789.1:p.Arg431Ter
XM_011522487.2:c.1291C>T	XP_011520789.1:p.Arg431Ter
XM_011522488.1:c.1288C>T	XP_011520790.1:p.Arg430Ter
XM_011522488.2:c.1288C>T	XP_011520790.1:p.Arg430Ter
XM_011522489.1:c.1288C>T	XP_011520791.1:p.Arg430Ter
XM_011522489.2:c.1288C>T	XP_011520791.1:p.Arg430Ter
XM_011522490.1:c.1285C>T	XP_011520792.1:p.Arg429Ter
XM_011522490.2:c.1285C>T	XP_011520792.1:p.Arg429Ter
XM_011522491.1:c.1537C>T	XP_011520793.1:p.Arg513Ter
XM_011522491.2:c.1537C>T	XP_011520793.1:p.Arg513Ter
XM_011522492.1:c.1243C>T	XP_011520794.1:p.Arg415Ter
XM_011522492.2:c.1243C>T	XP_011520794.1:p.Arg415Ter
XM_011522493.1:c.1240C>T	XP_011520795.1:p.Arg414Ter
XM_011522493.2:c.1240C>T	XP_011520795.1:p.Arg414Ter
XM_011522494.1:c.1171C>T	XP_011520796.1:p.Arg391Ter
XM_011522494.2:c.1171C>T	XP_011520796.1:p.Arg391Ter
XM_011522495.1:c.1096C>T	XP_011520797.1:p.Arg366Ter
XM_011522495.2:c.1096C>T	XP_011520797.1:p.Arg366Ter
XM_011522496.1:c.1093C>T	XP_011520798.1:p.Arg365Ter
XM_011522496.2:c.1093C>T	XP_011520798.1:p.Arg365Ter
XM_024450280.1:c.1483C>T	XP_024306048.1:p.Arg495Ter
XM_024450281.1:c.1336C>T	XP_024306049.1:p.Arg446Ter
XR_001751904.1:n.1556C>T
XR_932841.1:n.1552C>T
XR_932841.3:n.1554C>T
XR_932842.1:n.1552C>T
XR_932842.2:n.1554C>T
XR_932843.1:n.1552C>T
XR_932846.1:n.1552C>T
XR_932846.3:n.1556C>T
XR_932847.1:n.1552C>T
XR_932847.3:n.1556C>T
XR_932848.1:n.1009+1920C>T