Canonical Allele Identifier: CA493599377

Gene: CIITA

Linked Data

• gnomAD v4: 16-10902084-G-T
• MyVariant Identifiers: chr16:g.10995941G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10902084G>T , CM000678.2:g.10902084G>T	GRCh38
NC_000016.9:g.10995941G>T , CM000678.1:g.10995941G>T	GRCh37
NC_000016.8:g.10903442G>T	NCBI36
NG_009628.1:g.29887G>T , LRG_49:g.29887G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695879.1:n.553G>T
ENST00000324288.14:c.528G>T MANE Select	ENSP00000316328.8:p.Val176=
ENST00000637439.1:c.762G>T	ENSP00000489907.1:p.Val254=
ENST00000324288.12:c.528G>T	ENSP00000316328.8:p.Val176=
ENST00000381835.9:c.481+526G>T	ENSP00000371257.5:n.481+526G>T
ENST00000537380.1:n.528G>T
ENST00000570546.5:n.649G>T
ENST00000571186.5:c.*249G>T	ENSP00000459829.1:n.*249G>T
ENST00000573309.5:n.599+526G>T
ENST00000576601.1:c.456G>T	ENSP00000459608.1:p.Val152=
ENST00000611587.4:c.484+526G>T	ENSP00000483487.1:n.484+526G>T
ENST00000618207.4:c.528G>T	ENSP00000484761.1:p.Val176=
ENST00000618327.4:c.531G>T	ENSP00000485010.1:p.Val177=
NM_000246.3:c.528G>T , LRG_49t1:c.528G>T	NP_000237.2:p.Val176=
NM_001286402.1:c.531G>T	NP_001273331.1:p.Val177=
NM_001286403.1:c.481+526G>T	NP_001273332.1:n.481+526G>T
NR_104444.1:n.661G>T
XM_006720880.2:c.825G>T	XP_006720943.2:p.Val275=
XM_011522484.1:c.825G>T	XP_011520786.1:p.Val275=
XM_011522485.1:c.825G>T	XP_011520787.1:p.Val275=
XM_011522486.1:c.825G>T	XP_011520788.1:p.Val275=
XM_011522487.1:c.679+526G>T	XP_011520789.1:n.679+526G>T
XM_011522488.1:c.576G>T	XP_011520790.1:p.Val192=
XM_011522489.1:c.676+526G>T	XP_011520791.1:n.676+526G>T
XM_011522490.1:c.573G>T	XP_011520792.1:p.Val191=
XM_011522491.1:c.825G>T	XP_011520793.1:p.Val275=
XM_011522492.1:c.531G>T	XP_011520794.1:p.Val177=
XM_011522493.1:c.528G>T	XP_011520795.1:p.Val176=
XM_011522494.1:c.459G>T	XP_011520796.1:p.Val153=
XM_011522495.1:c.484+526G>T	XP_011520797.1:n.484+526G>T
XM_011522496.1:c.481+526G>T	XP_011520798.1:n.481+526G>T
XR_932841.1:n.840G>T
XR_932842.1:n.840G>T
XR_932843.1:n.840G>T
XR_932846.1:n.840G>T
XR_932847.1:n.840G>T
XR_932848.1:n.631+526G>T
XM_006720880.3:c.825G>T	XP_006720943.2:p.Val275=
XM_011522484.3:c.825G>T	XP_011520786.1:p.Val275=
XM_011522485.2:c.825G>T	XP_011520787.1:p.Val275=
XM_011522486.2:c.825G>T	XP_011520788.1:p.Val275=
XM_011522487.2:c.679+526G>T	XP_011520789.1:n.679+526G>T
XM_011522488.2:c.576G>T	XP_011520790.1:p.Val192=
XM_011522489.2:c.676+526G>T	XP_011520791.1:n.676+526G>T
XM_011522490.2:c.573G>T	XP_011520792.1:p.Val191=
XM_011522491.2:c.825G>T	XP_011520793.1:p.Val275=
XM_011522492.2:c.531G>T	XP_011520794.1:p.Val177=
XM_011522493.2:c.528G>T	XP_011520795.1:p.Val176=
XM_011522494.2:c.459G>T	XP_011520796.1:p.Val153=
XM_011522495.2:c.484+526G>T	XP_011520797.1:n.484+526G>T
XM_011522496.2:c.481+526G>T	XP_011520798.1:n.481+526G>T
XM_024450280.1:c.771G>T	XP_024306048.1:p.Val257=
XM_024450281.1:c.724+526G>T	XP_024306049.1:n.724+526G>T
XR_001751904.1:n.844G>T
XR_932841.3:n.842G>T
XR_932842.2:n.842G>T
XR_932846.3:n.844G>T
XR_932847.3:n.844G>T
NM_001286403.2:c.481+526G>T	NP_001273332.1:n.481+526G>T
NR_104444.2:n.657G>T
NM_000246.4:c.528G>T MANE Select	NP_000237.2:p.Val176=
NM_001379330.1:c.484+526G>T	NP_001366259.1:n.484+526G>T
NM_001379331.1:c.481+526G>T	NP_001366260.1:n.481+526G>T
NM_001379332.1:c.531G>T	NP_001366261.1:p.Val177=
NM_001379333.1:c.528G>T	NP_001366262.1:p.Val176=
NM_001379334.1:c.459G>T	NP_001366263.1:p.Val153=