Canonical Allele Identifier: CA277737959

Gene: CIITA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10902676C>T , CM000678.2:g.10902676C>T	GRCh38
NC_000016.9:g.10996533C>T , CM000678.1:g.10996533C>T	GRCh37
NC_000016.8:g.10904034C>T	NCBI36
NG_009628.1:g.30479C>T , LRG_49:g.30479C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000246.4:c.647C>T MANE Select	NP_000237.2:p.Ser216Leu
ENST00000324288.14:c.647C>T MANE Select	ENSP00000316328.8:p.Ser216Leu
NM_000246.3:c.647C>T , LRG_49t1:c.647C>T	NP_000237.2:p.Ser216Leu
NM_001286402.1:c.650C>T	NP_001273331.1:p.Ser217Leu
NM_001286403.1:c.500C>T	NP_001273332.1:p.Ser167Leu
NM_001286403.2:c.500C>T	NP_001273332.1:p.Ser167Leu
NM_001379330.1:c.503C>T	NP_001366259.1:p.Ser168Leu
NM_001379331.1:c.500C>T	NP_001366260.1:p.Ser167Leu
NM_001379332.1:c.650C>T	NP_001366261.1:p.Ser217Leu
NM_001379333.1:c.647C>T	NP_001366262.1:p.Ser216Leu
NM_001379334.1:c.578C>T	NP_001366263.1:p.Ser193Leu
NR_104444.1:n.780C>T
NR_104444.2:n.776C>T
ENST00000324288.12:c.647C>T	ENSP00000316328.8:p.Ser216Leu
ENST00000381835.9:c.500C>T	ENSP00000371257.5:p.Ser167Leu
ENST00000537380.1:n.647C>T
ENST00000570546.5:n.768C>T
ENST00000571186.5:c.*368C>T	ENSP00000459829.1:n.*368C>T
ENST00000573309.5:n.618C>T
ENST00000611587.4:c.503C>T	ENSP00000483487.1:p.Ser168Leu
ENST00000618207.4:c.647C>T	ENSP00000484761.1:p.Ser216Leu
ENST00000618327.4:c.650C>T	ENSP00000485010.1:p.Ser217Leu
ENST00000695879.1:n.672C>T
XM_006720880.2:c.944C>T	XP_006720943.2:p.Ser315Leu
XM_006720880.3:c.944C>T	XP_006720943.2:p.Ser315Leu
XM_011522484.1:c.944C>T	XP_011520786.1:p.Ser315Leu
XM_011522484.3:c.944C>T	XP_011520786.1:p.Ser315Leu
XM_011522485.1:c.944C>T	XP_011520787.1:p.Ser315Leu
XM_011522485.2:c.944C>T	XP_011520787.1:p.Ser315Leu
XM_011522486.1:c.944C>T	XP_011520788.1:p.Ser315Leu
XM_011522486.2:c.944C>T	XP_011520788.1:p.Ser315Leu
XM_011522487.1:c.698C>T	XP_011520789.1:p.Ser233Leu
XM_011522487.2:c.698C>T	XP_011520789.1:p.Ser233Leu
XM_011522488.1:c.695C>T	XP_011520790.1:p.Ser232Leu
XM_011522488.2:c.695C>T	XP_011520790.1:p.Ser232Leu
XM_011522489.1:c.695C>T	XP_011520791.1:p.Ser232Leu
XM_011522489.2:c.695C>T	XP_011520791.1:p.Ser232Leu
XM_011522490.1:c.692C>T	XP_011520792.1:p.Ser231Leu
XM_011522490.2:c.692C>T	XP_011520792.1:p.Ser231Leu
XM_011522491.1:c.944C>T	XP_011520793.1:p.Ser315Leu
XM_011522491.2:c.944C>T	XP_011520793.1:p.Ser315Leu
XM_011522492.1:c.650C>T	XP_011520794.1:p.Ser217Leu
XM_011522492.2:c.650C>T	XP_011520794.1:p.Ser217Leu
XM_011522493.1:c.647C>T	XP_011520795.1:p.Ser216Leu
XM_011522493.2:c.647C>T	XP_011520795.1:p.Ser216Leu
XM_011522494.1:c.578C>T	XP_011520796.1:p.Ser193Leu
XM_011522494.2:c.578C>T	XP_011520796.1:p.Ser193Leu
XM_011522495.1:c.503C>T	XP_011520797.1:p.Ser168Leu
XM_011522495.2:c.503C>T	XP_011520797.1:p.Ser168Leu
XM_011522496.1:c.500C>T	XP_011520798.1:p.Ser167Leu
XM_011522496.2:c.500C>T	XP_011520798.1:p.Ser167Leu
XM_024450280.1:c.890C>T	XP_024306048.1:p.Ser297Leu
XM_024450281.1:c.743C>T	XP_024306049.1:p.Ser248Leu
XR_001751904.1:n.963C>T
XR_932841.1:n.959C>T
XR_932841.3:n.961C>T
XR_932842.1:n.959C>T
XR_932842.2:n.961C>T
XR_932843.1:n.959C>T
XR_932846.1:n.959C>T
XR_932846.3:n.963C>T
XR_932847.1:n.959C>T
XR_932847.3:n.963C>T
XR_932848.1:n.650C>T