Canonical Allele Identifier: CA394734914

Gene: CIITA

Linked Data

• gnomAD v4: 16-10909110-G-C
• MyVariant Identifiers: chr16:g.11002967G>C (hg19) ; chr16:g.10909110G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10909110G>C , CM000678.2:g.10909110G>C	GRCh38
NC_000016.9:g.11002967G>C , CM000678.1:g.11002967G>C	GRCh37
NC_000016.8:g.10910468G>C	NCBI36
NG_009628.1:g.36913G>C , LRG_49:g.36913G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324288.14:c.2739G>C MANE Select	ENSP00000316328.8:p.Glu913Asp
ENST00000324288.12:c.2739G>C	ENSP00000316328.8:p.Glu913Asp
ENST00000381835.9:c.987G>C	ENSP00000371257.5:p.Glu329Asp
ENST00000537380.1:n.1007-1078G>C
ENST00000570546.5:n.3739G>C
ENST00000618207.4:c.1007-1078G>C	ENSP00000484761.1:n.1007-1078G>C
ENST00000618327.4:c.2742G>C	ENSP00000485010.1:p.Glu914Asp
NM_000246.3:c.2739G>C , LRG_49t1:c.2739G>C	NP_000237.2:p.Glu913Asp
NM_001286402.1:c.2742G>C	NP_001273331.1:p.Glu914Asp
NM_001286403.1:c.987G>C	NP_001273332.1:p.Glu329Asp
NR_104444.1:n.1140-1078G>C
XM_006720880.2:c.3036G>C	XP_006720943.2:p.Glu1012Asp
XM_011522484.1:c.3036G>C	XP_011520786.1:p.Glu1012Asp
XM_011522485.1:c.3036G>C	XP_011520787.1:p.Glu1012Asp
XM_011522486.1:c.3036G>C	XP_011520788.1:p.Glu1012Asp
XM_011522487.1:c.2790G>C	XP_011520789.1:p.Glu930Asp
XM_011522488.1:c.2787G>C	XP_011520790.1:p.Glu929Asp
XM_011522489.1:c.2787G>C	XP_011520791.1:p.Glu929Asp
XM_011522490.1:c.2784G>C	XP_011520792.1:p.Glu928Asp
XM_011522491.1:c.3036G>C	XP_011520793.1:p.Glu1012Asp
XM_011522492.1:c.2742G>C	XP_011520794.1:p.Glu914Asp
XM_011522493.1:c.2739G>C	XP_011520795.1:p.Glu913Asp
XM_011522494.1:c.2670G>C	XP_011520796.1:p.Glu890Asp
XM_011522495.1:c.2595G>C	XP_011520797.1:p.Glu865Asp
XM_011522496.1:c.2592G>C	XP_011520798.1:p.Glu864Asp
XR_932841.1:n.3051G>C
XR_932842.1:n.3051G>C
XR_932843.1:n.3051G>C
XR_932846.1:n.3097G>C
XR_932847.1:n.3097G>C
XR_932848.1:n.1137G>C
XM_006720880.3:c.3036G>C	XP_006720943.2:p.Glu1012Asp
XM_011522484.3:c.3036G>C	XP_011520786.1:p.Glu1012Asp
XM_011522485.2:c.3036G>C	XP_011520787.1:p.Glu1012Asp
XM_011522486.2:c.3036G>C	XP_011520788.1:p.Glu1012Asp
XM_011522487.2:c.2790G>C	XP_011520789.1:p.Glu930Asp
XM_011522488.2:c.2787G>C	XP_011520790.1:p.Glu929Asp
XM_011522489.2:c.2787G>C	XP_011520791.1:p.Glu929Asp
XM_011522490.2:c.2784G>C	XP_011520792.1:p.Glu928Asp
XM_011522491.2:c.3036G>C	XP_011520793.1:p.Glu1012Asp
XM_011522492.2:c.2742G>C	XP_011520794.1:p.Glu914Asp
XM_011522493.2:c.2739G>C	XP_011520795.1:p.Glu913Asp
XM_011522494.2:c.2670G>C	XP_011520796.1:p.Glu890Asp
XM_011522495.2:c.2595G>C	XP_011520797.1:p.Glu865Asp
XM_011522496.2:c.2592G>C	XP_011520798.1:p.Glu864Asp
XM_024450280.1:c.2982G>C	XP_024306048.1:p.Glu994Asp
XM_024450281.1:c.2835G>C	XP_024306049.1:p.Glu945Asp
XR_001751904.1:n.3101G>C
XR_932841.3:n.3053G>C
XR_932842.2:n.3053G>C
XR_932846.3:n.3101G>C
XR_932847.3:n.3101G>C
NM_001286403.2:c.987G>C	NP_001273332.1:p.Glu329Asp
NR_104444.2:n.1136-1078G>C
NM_000246.4:c.2739G>C MANE Select	NP_000237.2:p.Glu913Asp
NM_001379330.1:c.2595G>C	NP_001366259.1:p.Glu865Asp
NM_001379331.1:c.2592G>C	NP_001366260.1:p.Glu864Asp
NM_001379332.1:c.2742G>C	NP_001366261.1:p.Glu914Asp
NM_001379333.1:c.2739G>C	NP_001366262.1:p.Glu913Asp
NM_001379334.1:c.2670G>C	NP_001366263.1:p.Glu890Asp