Canonical Allele Identifier: CA394734860

Gene: CIITA

Linked Data

• dbSNP Id: rs1425727400
• gnomAD v2: 16-11002947-C-A
• gnomAD v4: 16-10909090-C-A
• MyVariant Identifiers: chr16:g.11002947C>A (hg19) ; chr16:g.10909090C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10909090C>A , CM000678.2:g.10909090C>A	GRCh38
NC_000016.9:g.11002947C>A , CM000678.1:g.11002947C>A	GRCh37
NC_000016.8:g.10910448C>A	NCBI36
NG_009628.1:g.36893C>A , LRG_49:g.36893C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324288.14:c.2719C>A MANE Select	ENSP00000316328.8:p.Leu907Ile
ENST00000324288.12:c.2719C>A	ENSP00000316328.8:p.Leu907Ile
ENST00000381835.9:c.967C>A	ENSP00000371257.5:p.Leu323Ile
ENST00000537380.1:n.1007-1098C>A
ENST00000570546.5:n.3719C>A
ENST00000618207.4:c.1007-1098C>A	ENSP00000484761.1:n.1007-1098C>A
ENST00000618327.4:c.2722C>A	ENSP00000485010.1:p.Leu908Ile
NM_000246.3:c.2719C>A , LRG_49t1:c.2719C>A	NP_000237.2:p.Leu907Ile
NM_001286402.1:c.2722C>A	NP_001273331.1:p.Leu908Ile
NM_001286403.1:c.967C>A	NP_001273332.1:p.Leu323Ile
NR_104444.1:n.1140-1098C>A
XM_006720880.2:c.3016C>A	XP_006720943.2:p.Leu1006Ile
XM_011522484.1:c.3016C>A	XP_011520786.1:p.Leu1006Ile
XM_011522485.1:c.3016C>A	XP_011520787.1:p.Leu1006Ile
XM_011522486.1:c.3016C>A	XP_011520788.1:p.Leu1006Ile
XM_011522487.1:c.2770C>A	XP_011520789.1:p.Leu924Ile
XM_011522488.1:c.2767C>A	XP_011520790.1:p.Leu923Ile
XM_011522489.1:c.2767C>A	XP_011520791.1:p.Leu923Ile
XM_011522490.1:c.2764C>A	XP_011520792.1:p.Leu922Ile
XM_011522491.1:c.3016C>A	XP_011520793.1:p.Leu1006Ile
XM_011522492.1:c.2722C>A	XP_011520794.1:p.Leu908Ile
XM_011522493.1:c.2719C>A	XP_011520795.1:p.Leu907Ile
XM_011522494.1:c.2650C>A	XP_011520796.1:p.Leu884Ile
XM_011522495.1:c.2575C>A	XP_011520797.1:p.Leu859Ile
XM_011522496.1:c.2572C>A	XP_011520798.1:p.Leu858Ile
XR_932841.1:n.3031C>A
XR_932842.1:n.3031C>A
XR_932843.1:n.3031C>A
XR_932846.1:n.3077C>A
XR_932847.1:n.3077C>A
XR_932848.1:n.1117C>A
XM_006720880.3:c.3016C>A	XP_006720943.2:p.Leu1006Ile
XM_011522484.3:c.3016C>A	XP_011520786.1:p.Leu1006Ile
XM_011522485.2:c.3016C>A	XP_011520787.1:p.Leu1006Ile
XM_011522486.2:c.3016C>A	XP_011520788.1:p.Leu1006Ile
XM_011522487.2:c.2770C>A	XP_011520789.1:p.Leu924Ile
XM_011522488.2:c.2767C>A	XP_011520790.1:p.Leu923Ile
XM_011522489.2:c.2767C>A	XP_011520791.1:p.Leu923Ile
XM_011522490.2:c.2764C>A	XP_011520792.1:p.Leu922Ile
XM_011522491.2:c.3016C>A	XP_011520793.1:p.Leu1006Ile
XM_011522492.2:c.2722C>A	XP_011520794.1:p.Leu908Ile
XM_011522493.2:c.2719C>A	XP_011520795.1:p.Leu907Ile
XM_011522494.2:c.2650C>A	XP_011520796.1:p.Leu884Ile
XM_011522495.2:c.2575C>A	XP_011520797.1:p.Leu859Ile
XM_011522496.2:c.2572C>A	XP_011520798.1:p.Leu858Ile
XM_024450280.1:c.2962C>A	XP_024306048.1:p.Leu988Ile
XM_024450281.1:c.2815C>A	XP_024306049.1:p.Leu939Ile
XR_001751904.1:n.3081C>A
XR_932841.3:n.3033C>A
XR_932842.2:n.3033C>A
XR_932846.3:n.3081C>A
XR_932847.3:n.3081C>A
NM_001286403.2:c.967C>A	NP_001273332.1:p.Leu323Ile
NR_104444.2:n.1136-1098C>A
NM_000246.4:c.2719C>A MANE Select	NP_000237.2:p.Leu907Ile
NM_001379330.1:c.2575C>A	NP_001366259.1:p.Leu859Ile
NM_001379331.1:c.2572C>A	NP_001366260.1:p.Leu858Ile
NM_001379332.1:c.2722C>A	NP_001366261.1:p.Leu908Ile
NM_001379333.1:c.2719C>A	NP_001366262.1:p.Leu907Ile
NM_001379334.1:c.2650C>A	NP_001366263.1:p.Leu884Ile