Canonical Allele Identifier: CA394728350

Gene: CIITA

Linked Data

• MyVariant Identifiers: chr16:g.10995992G>T (hg19) ; chr16:g.10902135G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10902135G>T , CM000678.2:g.10902135G>T	GRCh38
NC_000016.9:g.10995992G>T , CM000678.1:g.10995992G>T	GRCh37
NC_000016.8:g.10903493G>T	NCBI36
NG_009628.1:g.29938G>T , LRG_49:g.29938G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695879.1:n.604G>T
ENST00000324288.14:c.579G>T MANE Select	ENSP00000316328.8:p.Gln193His
ENST00000324288.12:c.579G>T	ENSP00000316328.8:p.Gln193His
ENST00000381835.9:c.482-523G>T	ENSP00000371257.5:n.482-523G>T
ENST00000537380.1:n.579G>T
ENST00000570546.5:n.700G>T
ENST00000571186.5:c.*300G>T	ENSP00000459829.1:n.*300G>T
ENST00000573309.5:n.600-523G>T
ENST00000576601.1:c.507G>T	ENSP00000459608.1:p.Gln169His
ENST00000611587.4:c.485-523G>T	ENSP00000483487.1:n.485-523G>T
ENST00000618207.4:c.579G>T	ENSP00000484761.1:p.Gln193His
ENST00000618327.4:c.582G>T	ENSP00000485010.1:p.Gln194His
NM_000246.3:c.579G>T , LRG_49t1:c.579G>T	NP_000237.2:p.Gln193His
NM_001286402.1:c.582G>T	NP_001273331.1:p.Gln194His
NM_001286403.1:c.482-523G>T	NP_001273332.1:n.482-523G>T
NR_104444.1:n.712G>T
XM_006720880.2:c.876G>T	XP_006720943.2:p.Gln292His
XM_011522484.1:c.876G>T	XP_011520786.1:p.Gln292His
XM_011522485.1:c.876G>T	XP_011520787.1:p.Gln292His
XM_011522486.1:c.876G>T	XP_011520788.1:p.Gln292His
XM_011522487.1:c.680-523G>T	XP_011520789.1:n.680-523G>T
XM_011522488.1:c.627G>T	XP_011520790.1:p.Gln209His
XM_011522489.1:c.677-523G>T	XP_011520791.1:n.677-523G>T
XM_011522490.1:c.624G>T	XP_011520792.1:p.Gln208His
XM_011522491.1:c.876G>T	XP_011520793.1:p.Gln292His
XM_011522492.1:c.582G>T	XP_011520794.1:p.Gln194His
XM_011522493.1:c.579G>T	XP_011520795.1:p.Gln193His
XM_011522494.1:c.510G>T	XP_011520796.1:p.Gln170His
XM_011522495.1:c.485-523G>T	XP_011520797.1:n.485-523G>T
XM_011522496.1:c.482-523G>T	XP_011520798.1:n.482-523G>T
XR_932841.1:n.891G>T
XR_932842.1:n.891G>T
XR_932843.1:n.891G>T
XR_932846.1:n.891G>T
XR_932847.1:n.891G>T
XR_932848.1:n.632-523G>T
XM_006720880.3:c.876G>T	XP_006720943.2:p.Gln292His
XM_011522484.3:c.876G>T	XP_011520786.1:p.Gln292His
XM_011522485.2:c.876G>T	XP_011520787.1:p.Gln292His
XM_011522486.2:c.876G>T	XP_011520788.1:p.Gln292His
XM_011522487.2:c.680-523G>T	XP_011520789.1:n.680-523G>T
XM_011522488.2:c.627G>T	XP_011520790.1:p.Gln209His
XM_011522489.2:c.677-523G>T	XP_011520791.1:n.677-523G>T
XM_011522490.2:c.624G>T	XP_011520792.1:p.Gln208His
XM_011522491.2:c.876G>T	XP_011520793.1:p.Gln292His
XM_011522492.2:c.582G>T	XP_011520794.1:p.Gln194His
XM_011522493.2:c.579G>T	XP_011520795.1:p.Gln193His
XM_011522494.2:c.510G>T	XP_011520796.1:p.Gln170His
XM_011522495.2:c.485-523G>T	XP_011520797.1:n.485-523G>T
XM_011522496.2:c.482-523G>T	XP_011520798.1:n.482-523G>T
XM_024450280.1:c.822G>T	XP_024306048.1:p.Gln274His
XM_024450281.1:c.725-523G>T	XP_024306049.1:n.725-523G>T
XR_001751904.1:n.895G>T
XR_932841.3:n.893G>T
XR_932842.2:n.893G>T
XR_932846.3:n.895G>T
XR_932847.3:n.895G>T
NM_001286403.2:c.482-523G>T	NP_001273332.1:n.482-523G>T
NR_104444.2:n.708G>T
NM_000246.4:c.579G>T MANE Select	NP_000237.2:p.Gln193His
NM_001379330.1:c.485-523G>T	NP_001366259.1:n.485-523G>T
NM_001379331.1:c.482-523G>T	NP_001366260.1:n.482-523G>T
NM_001379332.1:c.582G>T	NP_001366261.1:p.Gln194His
NM_001379333.1:c.579G>T	NP_001366262.1:p.Gln193His
NM_001379334.1:c.510G>T	NP_001366263.1:p.Gln170His