Canonical Allele Identifier: CA394728221

Gene: CIITA

Linked Data

• gnomAD v4: 16-10902083-T-C
• MyVariant Identifiers: chr16:g.10995940T>C (hg19) ; chr16:g.10902083T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10902083T>C , CM000678.2:g.10902083T>C	GRCh38
NC_000016.9:g.10995940T>C , CM000678.1:g.10995940T>C	GRCh37
NC_000016.8:g.10903441T>C	NCBI36
NG_009628.1:g.29886T>C , LRG_49:g.29886T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695879.1:n.552T>C
ENST00000324288.14:c.527T>C MANE Select	ENSP00000316328.8:p.Val176Ala
ENST00000637439.1:c.761T>C	ENSP00000489907.1:p.Val254Ala
ENST00000324288.12:c.527T>C	ENSP00000316328.8:p.Val176Ala
ENST00000381835.9:c.481+525T>C	ENSP00000371257.5:n.481+525T>C
ENST00000537380.1:n.527T>C
ENST00000570546.5:n.648T>C
ENST00000571186.5:c.*248T>C	ENSP00000459829.1:n.*248T>C
ENST00000573309.5:n.599+525T>C
ENST00000576601.1:c.455T>C	ENSP00000459608.1:p.Val152Ala
ENST00000611587.4:c.484+525T>C	ENSP00000483487.1:n.484+525T>C
ENST00000618207.4:c.527T>C	ENSP00000484761.1:p.Val176Ala
ENST00000618327.4:c.530T>C	ENSP00000485010.1:p.Val177Ala
NM_000246.3:c.527T>C , LRG_49t1:c.527T>C	NP_000237.2:p.Val176Ala
NM_001286402.1:c.530T>C	NP_001273331.1:p.Val177Ala
NM_001286403.1:c.481+525T>C	NP_001273332.1:n.481+525T>C
NR_104444.1:n.660T>C
XM_006720880.2:c.824T>C	XP_006720943.2:p.Val275Ala
XM_011522484.1:c.824T>C	XP_011520786.1:p.Val275Ala
XM_011522485.1:c.824T>C	XP_011520787.1:p.Val275Ala
XM_011522486.1:c.824T>C	XP_011520788.1:p.Val275Ala
XM_011522487.1:c.679+525T>C	XP_011520789.1:n.679+525T>C
XM_011522488.1:c.575T>C	XP_011520790.1:p.Val192Ala
XM_011522489.1:c.676+525T>C	XP_011520791.1:n.676+525T>C
XM_011522490.1:c.572T>C	XP_011520792.1:p.Val191Ala
XM_011522491.1:c.824T>C	XP_011520793.1:p.Val275Ala
XM_011522492.1:c.530T>C	XP_011520794.1:p.Val177Ala
XM_011522493.1:c.527T>C	XP_011520795.1:p.Val176Ala
XM_011522494.1:c.458T>C	XP_011520796.1:p.Val153Ala
XM_011522495.1:c.484+525T>C	XP_011520797.1:n.484+525T>C
XM_011522496.1:c.481+525T>C	XP_011520798.1:n.481+525T>C
XR_932841.1:n.839T>C
XR_932842.1:n.839T>C
XR_932843.1:n.839T>C
XR_932846.1:n.839T>C
XR_932847.1:n.839T>C
XR_932848.1:n.631+525T>C
XM_006720880.3:c.824T>C	XP_006720943.2:p.Val275Ala
XM_011522484.3:c.824T>C	XP_011520786.1:p.Val275Ala
XM_011522485.2:c.824T>C	XP_011520787.1:p.Val275Ala
XM_011522486.2:c.824T>C	XP_011520788.1:p.Val275Ala
XM_011522487.2:c.679+525T>C	XP_011520789.1:n.679+525T>C
XM_011522488.2:c.575T>C	XP_011520790.1:p.Val192Ala
XM_011522489.2:c.676+525T>C	XP_011520791.1:n.676+525T>C
XM_011522490.2:c.572T>C	XP_011520792.1:p.Val191Ala
XM_011522491.2:c.824T>C	XP_011520793.1:p.Val275Ala
XM_011522492.2:c.530T>C	XP_011520794.1:p.Val177Ala
XM_011522493.2:c.527T>C	XP_011520795.1:p.Val176Ala
XM_011522494.2:c.458T>C	XP_011520796.1:p.Val153Ala
XM_011522495.2:c.484+525T>C	XP_011520797.1:n.484+525T>C
XM_011522496.2:c.481+525T>C	XP_011520798.1:n.481+525T>C
XM_024450280.1:c.770T>C	XP_024306048.1:p.Val257Ala
XM_024450281.1:c.724+525T>C	XP_024306049.1:n.724+525T>C
XR_001751904.1:n.843T>C
XR_932841.3:n.841T>C
XR_932842.2:n.841T>C
XR_932846.3:n.843T>C
XR_932847.3:n.843T>C
NM_001286403.2:c.481+525T>C	NP_001273332.1:n.481+525T>C
NR_104444.2:n.656T>C
NM_000246.4:c.527T>C MANE Select	NP_000237.2:p.Val176Ala
NM_001379330.1:c.484+525T>C	NP_001366259.1:n.484+525T>C
NM_001379331.1:c.481+525T>C	NP_001366260.1:n.481+525T>C
NM_001379332.1:c.530T>C	NP_001366261.1:p.Val177Ala
NM_001379333.1:c.527T>C	NP_001366262.1:p.Val176Ala
NM_001379334.1:c.458T>C	NP_001366263.1:p.Val153Ala