Canonical Allele Identifier: CA717939295

Gene: CIITA

Linked Data

• dbSNP Id: rs1392451124
• gnomAD v3: 16-10908886-T-C
• gnomAD v4: 16-10908886-T-C
• MyVariant Identifiers: chr16:g.11002743T>C (hg19) ; chr16:g.10908886T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10908886T>C , CM000678.2:g.10908886T>C	GRCh38
NC_000016.9:g.11002743T>C , CM000678.1:g.11002743T>C	GRCh37
NC_000016.8:g.10910244T>C	NCBI36
NG_009628.1:g.36689T>C , LRG_49:g.36689T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324288.14:c.2658-143T>C MANE Select	ENSP00000316328.8:n.2658-143T>C
ENST00000324288.12:c.2658-143T>C	ENSP00000316328.8:n.2658-143T>C
ENST00000381835.9:c.860-97T>C	ENSP00000371257.5:n.860-97T>C
ENST00000537380.1:n.1007-1302T>C
ENST00000570546.5:n.3515T>C
ENST00000573309.5:n.3365T>C
ENST00000611587.4:c.*592T>C	ENSP00000483487.1:n.*592T>C
ENST00000618207.4:c.1007-1302T>C	ENSP00000484761.1:n.1007-1302T>C
ENST00000618327.4:c.2661-143T>C	ENSP00000485010.1:n.2661-143T>C
NM_000246.3:c.2658-143T>C , LRG_49t1:c.2658-143T>C	NP_000237.2:n.2658-143T>C
NM_001286402.1:c.2661-143T>C	NP_001273331.1:n.2661-143T>C
NM_001286403.1:c.860-97T>C	NP_001273332.1:n.860-97T>C
NR_104444.1:n.1140-1302T>C
XM_006720880.2:c.2955-143T>C	XP_006720943.2:n.2955-143T>C
XM_011522484.1:c.2955-143T>C	XP_011520786.1:n.2955-143T>C
XM_011522485.1:c.2955-143T>C	XP_011520787.1:n.2955-143T>C
XM_011522486.1:c.2955-143T>C	XP_011520788.1:n.2955-143T>C
XM_011522487.1:c.2709-143T>C	XP_011520789.1:n.2709-143T>C
XM_011522488.1:c.2706-143T>C	XP_011520790.1:n.2706-143T>C
XM_011522489.1:c.2706-143T>C	XP_011520791.1:n.2706-143T>C
XM_011522490.1:c.2703-143T>C	XP_011520792.1:n.2703-143T>C
XM_011522491.1:c.2955-143T>C	XP_011520793.1:n.2955-143T>C
XM_011522492.1:c.2661-143T>C	XP_011520794.1:n.2661-143T>C
XM_011522493.1:c.2658-143T>C	XP_011520795.1:n.2658-143T>C
XM_011522494.1:c.2589-143T>C	XP_011520796.1:n.2589-143T>C
XM_011522495.1:c.2514-143T>C	XP_011520797.1:n.2514-143T>C
XM_011522496.1:c.2511-143T>C	XP_011520798.1:n.2511-143T>C
XR_932841.1:n.2970-143T>C
XR_932842.1:n.2970-143T>C
XR_932843.1:n.2970-143T>C
XR_932846.1:n.2970-97T>C
XR_932847.1:n.2970-97T>C
XR_932848.1:n.1010-97T>C
XM_006720880.3:c.2955-143T>C	XP_006720943.2:n.2955-143T>C
XM_011522484.3:c.2955-143T>C	XP_011520786.1:n.2955-143T>C
XM_011522485.2:c.2955-143T>C	XP_011520787.1:n.2955-143T>C
XM_011522486.2:c.2955-143T>C	XP_011520788.1:n.2955-143T>C
XM_011522487.2:c.2709-143T>C	XP_011520789.1:n.2709-143T>C
XM_011522488.2:c.2706-143T>C	XP_011520790.1:n.2706-143T>C
XM_011522489.2:c.2706-143T>C	XP_011520791.1:n.2706-143T>C
XM_011522490.2:c.2703-143T>C	XP_011520792.1:n.2703-143T>C
XM_011522491.2:c.2955-143T>C	XP_011520793.1:n.2955-143T>C
XM_011522492.2:c.2661-143T>C	XP_011520794.1:n.2661-143T>C
XM_011522493.2:c.2658-143T>C	XP_011520795.1:n.2658-143T>C
XM_011522494.2:c.2589-143T>C	XP_011520796.1:n.2589-143T>C
XM_011522495.2:c.2514-143T>C	XP_011520797.1:n.2514-143T>C
XM_011522496.2:c.2511-143T>C	XP_011520798.1:n.2511-143T>C
XM_024450280.1:c.2901-143T>C	XP_024306048.1:n.2901-143T>C
XM_024450281.1:c.2754-143T>C	XP_024306049.1:n.2754-143T>C
XR_001751904.1:n.2974-97T>C
XR_932841.3:n.2972-143T>C
XR_932842.2:n.2972-143T>C
XR_932846.3:n.2974-97T>C
XR_932847.3:n.2974-97T>C
NM_001286403.2:c.860-97T>C	NP_001273332.1:n.860-97T>C
NR_104444.2:n.1136-1302T>C
NM_000246.4:c.2658-143T>C MANE Select	NP_000237.2:n.2658-143T>C
NM_001379330.1:c.2514-143T>C	NP_001366259.1:n.2514-143T>C
NM_001379331.1:c.2511-143T>C	NP_001366260.1:n.2511-143T>C
NM_001379332.1:c.2661-143T>C	NP_001366261.1:n.2661-143T>C
NM_001379333.1:c.2658-143T>C	NP_001366262.1:n.2658-143T>C
NM_001379334.1:c.2589-143T>C	NP_001366263.1:n.2589-143T>C