Canonical Allele Identifier: CA7899790

Gene: CIITA

Linked Data

• dbSNP Id: rs776507331
• ExAC: 16:10995913 T / C
• gnomAD v2: 16-10995913-T-C
• gnomAD v3: 16-10902056-T-C
• gnomAD v4: 16-10902056-T-C
• MyVariant Identifiers: chr16:g.10995913T>C (hg19) ; chr16:g.10902056T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10902056T>C , CM000678.2:g.10902056T>C	GRCh38
NC_000016.9:g.10995913T>C , CM000678.1:g.10995913T>C	GRCh37
NC_000016.8:g.10903414T>C	NCBI36
NG_009628.1:g.29859T>C , LRG_49:g.29859T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000695879.1:n.525T>C
ENST00000324288.14:c.500T>C MANE Select	ENSP00000316328.8:p.Val167Ala
ENST00000637439.1:c.734T>C	ENSP00000489907.1:p.Val245Ala
ENST00000324288.12:c.500T>C	ENSP00000316328.8:p.Val167Ala
ENST00000381835.9:c.481+498T>C	ENSP00000371257.5:n.481+498T>C
ENST00000537380.1:n.500T>C
ENST00000570546.5:n.621T>C
ENST00000571186.5:c.*221T>C	ENSP00000459829.1:n.*221T>C
ENST00000573309.5:n.599+498T>C
ENST00000576601.1:c.428T>C	ENSP00000459608.1:p.Val143Ala
ENST00000611587.4:c.484+498T>C	ENSP00000483487.1:n.484+498T>C
ENST00000618207.4:c.500T>C	ENSP00000484761.1:p.Val167Ala
ENST00000618327.4:c.503T>C	ENSP00000485010.1:p.Val168Ala
NM_000246.3:c.500T>C , LRG_49t1:c.500T>C	NP_000237.2:p.Val167Ala
NM_001286402.1:c.503T>C	NP_001273331.1:p.Val168Ala
NM_001286403.1:c.481+498T>C	NP_001273332.1:n.481+498T>C
NR_104444.1:n.633T>C
XM_006720880.2:c.797T>C	XP_006720943.2:p.Val266Ala
XM_011522484.1:c.797T>C	XP_011520786.1:p.Val266Ala
XM_011522485.1:c.797T>C	XP_011520787.1:p.Val266Ala
XM_011522486.1:c.797T>C	XP_011520788.1:p.Val266Ala
XM_011522487.1:c.679+498T>C	XP_011520789.1:n.679+498T>C
XM_011522488.1:c.548T>C	XP_011520790.1:p.Val183Ala
XM_011522489.1:c.676+498T>C	XP_011520791.1:n.676+498T>C
XM_011522490.1:c.545T>C	XP_011520792.1:p.Val182Ala
XM_011522491.1:c.797T>C	XP_011520793.1:p.Val266Ala
XM_011522492.1:c.503T>C	XP_011520794.1:p.Val168Ala
XM_011522493.1:c.500T>C	XP_011520795.1:p.Val167Ala
XM_011522494.1:c.431T>C	XP_011520796.1:p.Val144Ala
XM_011522495.1:c.484+498T>C	XP_011520797.1:n.484+498T>C
XM_011522496.1:c.481+498T>C	XP_011520798.1:n.481+498T>C
XR_932841.1:n.812T>C
XR_932842.1:n.812T>C
XR_932843.1:n.812T>C
XR_932846.1:n.812T>C
XR_932847.1:n.812T>C
XR_932848.1:n.631+498T>C
XM_006720880.3:c.797T>C	XP_006720943.2:p.Val266Ala
XM_011522484.3:c.797T>C	XP_011520786.1:p.Val266Ala
XM_011522485.2:c.797T>C	XP_011520787.1:p.Val266Ala
XM_011522486.2:c.797T>C	XP_011520788.1:p.Val266Ala
XM_011522487.2:c.679+498T>C	XP_011520789.1:n.679+498T>C
XM_011522488.2:c.548T>C	XP_011520790.1:p.Val183Ala
XM_011522489.2:c.676+498T>C	XP_011520791.1:n.676+498T>C
XM_011522490.2:c.545T>C	XP_011520792.1:p.Val182Ala
XM_011522491.2:c.797T>C	XP_011520793.1:p.Val266Ala
XM_011522492.2:c.503T>C	XP_011520794.1:p.Val168Ala
XM_011522493.2:c.500T>C	XP_011520795.1:p.Val167Ala
XM_011522494.2:c.431T>C	XP_011520796.1:p.Val144Ala
XM_011522495.2:c.484+498T>C	XP_011520797.1:n.484+498T>C
XM_011522496.2:c.481+498T>C	XP_011520798.1:n.481+498T>C
XM_024450280.1:c.743T>C	XP_024306048.1:p.Val248Ala
XM_024450281.1:c.724+498T>C	XP_024306049.1:n.724+498T>C
XR_001751904.1:n.816T>C
XR_932841.3:n.814T>C
XR_932842.2:n.814T>C
XR_932846.3:n.816T>C
XR_932847.3:n.816T>C
NM_001286403.2:c.481+498T>C	NP_001273332.1:n.481+498T>C
NR_104444.2:n.629T>C
NM_000246.4:c.500T>C MANE Select	NP_000237.2:p.Val167Ala
NM_001379330.1:c.484+498T>C	NP_001366259.1:n.484+498T>C
NM_001379331.1:c.481+498T>C	NP_001366260.1:n.481+498T>C
NM_001379332.1:c.503T>C	NP_001366261.1:p.Val168Ala
NM_001379333.1:c.500T>C	NP_001366262.1:p.Val167Ala
NM_001379334.1:c.431T>C	NP_001366263.1:p.Val144Ala