Canonical Allele Identifier: CA7900525
Community Standard Title: NM_000246.4(CIITA):c.2832G>T (p.Ser944=)
Gene: CIITA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.10910203G>T , CM000678.2:g.10910203G>T GRCh38
NC_000016.9:g.11004060G>T , CM000678.1:g.11004060G>T GRCh37
NC_000016.8:g.10911561G>T NCBI36
NG_009628.1:g.38006G>T , LRG_49:g.38006G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000246.4:c.2832G>T MANE Select NP_000237.2:p.Ser944=
ENST00000324288.14:c.2832G>T MANE Select ENSP00000316328.8:p.Ser944=
NM_000246.3:c.2832G>T , LRG_49t1:c.2832G>T NP_000237.2:p.Ser944=
NM_001286402.1:c.2835G>T NP_001273331.1:p.Ser945=
NM_001286403.1:c.1080G>T NP_001273332.1:p.Ser360=
NM_001286403.2:c.1080G>T NP_001273332.1:p.Ser360=
NM_001379330.1:c.2688G>T NP_001366259.1:p.Ser896=
NM_001379331.1:c.2685G>T NP_001366260.1:p.Ser895=
NM_001379332.1:c.2835G>T NP_001366261.1:p.Ser945=
NM_001379333.1:c.2832G>T NP_001366262.1:p.Ser944=
NM_001379334.1:c.2763G>T NP_001366263.1:p.Ser921=
NR_104444.1:n.1155G>T
NR_104444.2:n.1151G>T
ENST00000324288.12:c.2832G>T ENSP00000316328.8:p.Ser944=
ENST00000381835.9:c.1080G>T ENSP00000371257.5:p.Ser360=
ENST00000537380.1:n.1022G>T
ENST00000570546.5:n.3832G>T
ENST00000618207.4:c.1022G>T ENSP00000484761.1:p.Arg341Leu
ENST00000618327.4:c.2835G>T ENSP00000485010.1:p.Ser945=
XM_006720880.2:c.3129G>T XP_006720943.2:p.Ser1043=
XM_006720880.3:c.3129G>T XP_006720943.2:p.Ser1043=
XM_011522484.1:c.3129G>T XP_011520786.1:p.Ser1043=
XM_011522484.3:c.3129G>T XP_011520786.1:p.Ser1043=
XM_011522485.1:c.3129G>T XP_011520787.1:p.Ser1043=
XM_011522485.2:c.3129G>T XP_011520787.1:p.Ser1043=
XM_011522486.1:c.3129G>T XP_011520788.1:p.Ser1043=
XM_011522486.2:c.3129G>T XP_011520788.1:p.Ser1043=
XM_011522487.1:c.2883G>T XP_011520789.1:p.Ser961=
XM_011522487.2:c.2883G>T XP_011520789.1:p.Ser961=
XM_011522488.1:c.2880G>T XP_011520790.1:p.Ser960=
XM_011522488.2:c.2880G>T XP_011520790.1:p.Ser960=
XM_011522489.1:c.2880G>T XP_011520791.1:p.Ser960=
XM_011522489.2:c.2880G>T XP_011520791.1:p.Ser960=
XM_011522490.1:c.2877G>T XP_011520792.1:p.Ser959=
XM_011522490.2:c.2877G>T XP_011520792.1:p.Ser959=
XM_011522491.1:c.3129G>T XP_011520793.1:p.Ser1043=
XM_011522491.2:c.3129G>T XP_011520793.1:p.Ser1043=
XM_011522492.1:c.2835G>T XP_011520794.1:p.Ser945=
XM_011522492.2:c.2835G>T XP_011520794.1:p.Ser945=
XM_011522493.1:c.2832G>T XP_011520795.1:p.Ser944=
XM_011522493.2:c.2832G>T XP_011520795.1:p.Ser944=
XM_011522494.1:c.2763G>T XP_011520796.1:p.Ser921=
XM_011522494.2:c.2763G>T XP_011520796.1:p.Ser921=
XM_011522495.1:c.2688G>T XP_011520797.1:p.Ser896=
XM_011522495.2:c.2688G>T XP_011520797.1:p.Ser896=
XM_011522496.1:c.2685G>T XP_011520798.1:p.Ser895=
XM_011522496.2:c.2685G>T XP_011520798.1:p.Ser895=
XM_024450280.1:c.3075G>T XP_024306048.1:p.Ser1025=
XM_024450281.1:c.2928G>T XP_024306049.1:p.Ser976=
XR_001751904.1:n.3194G>T
XR_932841.1:n.3144G>T
XR_932841.3:n.3146G>T
XR_932842.1:n.3144G>T
XR_932842.2:n.3146G>T
XR_932843.1:n.3144G>T
XR_932846.1:n.3190G>T
XR_932846.3:n.3194G>T
XR_932847.1:n.3190G>T
XR_932847.3:n.3194G>T
XR_932848.1:n.1230G>T