Canonical Allele Identifier: CA394734748

Gene: CIITA

Linked Data

• dbSNP Id: rs1397406583
• gnomAD v2: 16-11002915-G-T
• gnomAD v4: 16-10909058-G-T
• MyVariant Identifiers: chr16:g.11002915G>T (hg19) ; chr16:g.10909058G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10909058G>T , CM000678.2:g.10909058G>T	GRCh38
NC_000016.9:g.11002915G>T , CM000678.1:g.11002915G>T	GRCh37
NC_000016.8:g.10910416G>T	NCBI36
NG_009628.1:g.36861G>T , LRG_49:g.36861G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324288.14:c.2687G>T MANE Select	ENSP00000316328.8:p.Trp896Leu
ENST00000324288.12:c.2687G>T	ENSP00000316328.8:p.Trp896Leu
ENST00000381835.9:c.935G>T	ENSP00000371257.5:p.Trp312Leu
ENST00000537380.1:n.1007-1130G>T
ENST00000570546.5:n.3687G>T
ENST00000618207.4:c.1007-1130G>T	ENSP00000484761.1:n.1007-1130G>T
ENST00000618327.4:c.2690G>T	ENSP00000485010.1:p.Trp897Leu
NM_000246.3:c.2687G>T , LRG_49t1:c.2687G>T	NP_000237.2:p.Trp896Leu
NM_001286402.1:c.2690G>T	NP_001273331.1:p.Trp897Leu
NM_001286403.1:c.935G>T	NP_001273332.1:p.Trp312Leu
NR_104444.1:n.1140-1130G>T
XM_006720880.2:c.2984G>T	XP_006720943.2:p.Trp995Leu
XM_011522484.1:c.2984G>T	XP_011520786.1:p.Trp995Leu
XM_011522485.1:c.2984G>T	XP_011520787.1:p.Trp995Leu
XM_011522486.1:c.2984G>T	XP_011520788.1:p.Trp995Leu
XM_011522487.1:c.2738G>T	XP_011520789.1:p.Trp913Leu
XM_011522488.1:c.2735G>T	XP_011520790.1:p.Trp912Leu
XM_011522489.1:c.2735G>T	XP_011520791.1:p.Trp912Leu
XM_011522490.1:c.2732G>T	XP_011520792.1:p.Trp911Leu
XM_011522491.1:c.2984G>T	XP_011520793.1:p.Trp995Leu
XM_011522492.1:c.2690G>T	XP_011520794.1:p.Trp897Leu
XM_011522493.1:c.2687G>T	XP_011520795.1:p.Trp896Leu
XM_011522494.1:c.2618G>T	XP_011520796.1:p.Trp873Leu
XM_011522495.1:c.2543G>T	XP_011520797.1:p.Trp848Leu
XM_011522496.1:c.2540G>T	XP_011520798.1:p.Trp847Leu
XR_932841.1:n.2999G>T
XR_932842.1:n.2999G>T
XR_932843.1:n.2999G>T
XR_932846.1:n.3045G>T
XR_932847.1:n.3045G>T
XR_932848.1:n.1085G>T
XM_006720880.3:c.2984G>T	XP_006720943.2:p.Trp995Leu
XM_011522484.3:c.2984G>T	XP_011520786.1:p.Trp995Leu
XM_011522485.2:c.2984G>T	XP_011520787.1:p.Trp995Leu
XM_011522486.2:c.2984G>T	XP_011520788.1:p.Trp995Leu
XM_011522487.2:c.2738G>T	XP_011520789.1:p.Trp913Leu
XM_011522488.2:c.2735G>T	XP_011520790.1:p.Trp912Leu
XM_011522489.2:c.2735G>T	XP_011520791.1:p.Trp912Leu
XM_011522490.2:c.2732G>T	XP_011520792.1:p.Trp911Leu
XM_011522491.2:c.2984G>T	XP_011520793.1:p.Trp995Leu
XM_011522492.2:c.2690G>T	XP_011520794.1:p.Trp897Leu
XM_011522493.2:c.2687G>T	XP_011520795.1:p.Trp896Leu
XM_011522494.2:c.2618G>T	XP_011520796.1:p.Trp873Leu
XM_011522495.2:c.2543G>T	XP_011520797.1:p.Trp848Leu
XM_011522496.2:c.2540G>T	XP_011520798.1:p.Trp847Leu
XM_024450280.1:c.2930G>T	XP_024306048.1:p.Trp977Leu
XM_024450281.1:c.2783G>T	XP_024306049.1:p.Trp928Leu
XR_001751904.1:n.3049G>T
XR_932841.3:n.3001G>T
XR_932842.2:n.3001G>T
XR_932846.3:n.3049G>T
XR_932847.3:n.3049G>T
NM_001286403.2:c.935G>T	NP_001273332.1:p.Trp312Leu
NR_104444.2:n.1136-1130G>T
NM_000246.4:c.2687G>T MANE Select	NP_000237.2:p.Trp896Leu
NM_001379330.1:c.2543G>T	NP_001366259.1:p.Trp848Leu
NM_001379331.1:c.2540G>T	NP_001366260.1:p.Trp847Leu
NM_001379332.1:c.2690G>T	NP_001366261.1:p.Trp897Leu
NM_001379333.1:c.2687G>T	NP_001366262.1:p.Trp896Leu
NM_001379334.1:c.2618G>T	NP_001366263.1:p.Trp873Leu