Canonical Allele Identifier: CA493599311

Gene: CIITA

Linked Data

• ClinVar Variation Id: 1149200
• ClinVar RCV Id: RCV001489368
• dbSNP Id: rs142478532
• gnomAD v2: 16-10995905-C-A
• gnomAD v4: 16-10902048-C-A
• MyVariant Identifiers: chr16:g.10995905C>A (hg19) ; chr16:g.10902048C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10902048C>A , CM000678.2:g.10902048C>A	GRCh38
NC_000016.9:g.10995905C>A , CM000678.1:g.10995905C>A	GRCh37
NC_000016.8:g.10903406C>A	NCBI36
NG_009628.1:g.29851C>A , LRG_49:g.29851C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000695879.1:n.517C>A
ENST00000324288.14:c.492C>A MANE Select	ENSP00000316328.8:p.Pro164=
ENST00000637439.1:c.726C>A	ENSP00000489907.1:p.Pro242=
ENST00000324288.12:c.492C>A	ENSP00000316328.8:p.Pro164=
ENST00000381835.9:c.481+490C>A	ENSP00000371257.5:n.481+490C>A
ENST00000537380.1:n.492C>A
ENST00000570546.5:n.613C>A
ENST00000571186.5:c.*213C>A	ENSP00000459829.1:n.*213C>A
ENST00000573309.5:n.599+490C>A
ENST00000576601.1:c.420C>A	ENSP00000459608.1:p.Pro140=
ENST00000611587.4:c.484+490C>A	ENSP00000483487.1:n.484+490C>A
ENST00000618207.4:c.492C>A	ENSP00000484761.1:p.Pro164=
ENST00000618327.4:c.495C>A	ENSP00000485010.1:p.Pro165=
NM_000246.3:c.492C>A , LRG_49t1:c.492C>A	NP_000237.2:p.Pro164=
NM_001286402.1:c.495C>A	NP_001273331.1:p.Pro165=
NM_001286403.1:c.481+490C>A	NP_001273332.1:n.481+490C>A
NR_104444.1:n.625C>A
XM_006720880.2:c.789C>A	XP_006720943.2:p.Pro263=
XM_011522484.1:c.789C>A	XP_011520786.1:p.Pro263=
XM_011522485.1:c.789C>A	XP_011520787.1:p.Pro263=
XM_011522486.1:c.789C>A	XP_011520788.1:p.Pro263=
XM_011522487.1:c.679+490C>A	XP_011520789.1:n.679+490C>A
XM_011522488.1:c.540C>A	XP_011520790.1:p.Pro180=
XM_011522489.1:c.676+490C>A	XP_011520791.1:n.676+490C>A
XM_011522490.1:c.537C>A	XP_011520792.1:p.Pro179=
XM_011522491.1:c.789C>A	XP_011520793.1:p.Pro263=
XM_011522492.1:c.495C>A	XP_011520794.1:p.Pro165=
XM_011522493.1:c.492C>A	XP_011520795.1:p.Pro164=
XM_011522494.1:c.423C>A	XP_011520796.1:p.Pro141=
XM_011522495.1:c.484+490C>A	XP_011520797.1:n.484+490C>A
XM_011522496.1:c.481+490C>A	XP_011520798.1:n.481+490C>A
XR_932841.1:n.804C>A
XR_932842.1:n.804C>A
XR_932843.1:n.804C>A
XR_932846.1:n.804C>A
XR_932847.1:n.804C>A
XR_932848.1:n.631+490C>A
XM_006720880.3:c.789C>A	XP_006720943.2:p.Pro263=
XM_011522484.3:c.789C>A	XP_011520786.1:p.Pro263=
XM_011522485.2:c.789C>A	XP_011520787.1:p.Pro263=
XM_011522486.2:c.789C>A	XP_011520788.1:p.Pro263=
XM_011522487.2:c.679+490C>A	XP_011520789.1:n.679+490C>A
XM_011522488.2:c.540C>A	XP_011520790.1:p.Pro180=
XM_011522489.2:c.676+490C>A	XP_011520791.1:n.676+490C>A
XM_011522490.2:c.537C>A	XP_011520792.1:p.Pro179=
XM_011522491.2:c.789C>A	XP_011520793.1:p.Pro263=
XM_011522492.2:c.495C>A	XP_011520794.1:p.Pro165=
XM_011522493.2:c.492C>A	XP_011520795.1:p.Pro164=
XM_011522494.2:c.423C>A	XP_011520796.1:p.Pro141=
XM_011522495.2:c.484+490C>A	XP_011520797.1:n.484+490C>A
XM_011522496.2:c.481+490C>A	XP_011520798.1:n.481+490C>A
XM_024450280.1:c.735C>A	XP_024306048.1:p.Pro245=
XM_024450281.1:c.724+490C>A	XP_024306049.1:n.724+490C>A
XR_001751904.1:n.808C>A
XR_932841.3:n.806C>A
XR_932842.2:n.806C>A
XR_932846.3:n.808C>A
XR_932847.3:n.808C>A
NM_001286403.2:c.481+490C>A	NP_001273332.1:n.481+490C>A
NR_104444.2:n.621C>A
NM_000246.4:c.492C>A MANE Select	NP_000237.2:p.Pro164=
NM_001379330.1:c.484+490C>A	NP_001366259.1:n.484+490C>A
NM_001379331.1:c.481+490C>A	NP_001366260.1:n.481+490C>A
NM_001379332.1:c.495C>A	NP_001366261.1:p.Pro165=
NM_001379333.1:c.492C>A	NP_001366262.1:p.Pro164=
NM_001379334.1:c.423C>A	NP_001366263.1:p.Pro141=