Canonical Allele Identifier: CA394734918
Community Standard Title: NM_000246.4(CIITA):c.2740A>T (p.Lys914Ter)
Gene: CIITA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.10909111A>T , CM000678.2:g.10909111A>T GRCh38
NC_000016.9:g.11002968A>T , CM000678.1:g.11002968A>T GRCh37
NC_000016.8:g.10910469A>T NCBI36
NG_009628.1:g.36914A>T , LRG_49:g.36914A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000246.4:c.2740A>T MANE Select NP_000237.2:p.Lys914Ter
ENST00000324288.14:c.2740A>T MANE Select ENSP00000316328.8:p.Lys914Ter
NM_000246.3:c.2740A>T , LRG_49t1:c.2740A>T NP_000237.2:p.Lys914Ter
NM_001286402.1:c.2743A>T NP_001273331.1:p.Lys915Ter
NM_001286403.1:c.988A>T NP_001273332.1:p.Lys330Ter
NM_001286403.2:c.988A>T NP_001273332.1:p.Lys330Ter
NM_001379330.1:c.2596A>T NP_001366259.1:p.Lys866Ter
NM_001379331.1:c.2593A>T NP_001366260.1:p.Lys865Ter
NM_001379332.1:c.2743A>T NP_001366261.1:p.Lys915Ter
NM_001379333.1:c.2740A>T NP_001366262.1:p.Lys914Ter
NM_001379334.1:c.2671A>T NP_001366263.1:p.Lys891Ter
NR_104444.1:n.1140-1077A>T
NR_104444.2:n.1136-1077A>T
ENST00000324288.12:c.2740A>T ENSP00000316328.8:p.Lys914Ter
ENST00000381835.9:c.988A>T ENSP00000371257.5:p.Lys330Ter
ENST00000537380.1:n.1007-1077A>T
ENST00000570546.5:n.3740A>T
ENST00000618207.4:c.1007-1077A>T ENSP00000484761.1:n.1007-1077A>T
ENST00000618327.4:c.2743A>T ENSP00000485010.1:p.Lys915Ter
XM_006720880.2:c.3037A>T XP_006720943.2:p.Lys1013Ter
XM_006720880.3:c.3037A>T XP_006720943.2:p.Lys1013Ter
XM_011522484.1:c.3037A>T XP_011520786.1:p.Lys1013Ter
XM_011522484.3:c.3037A>T XP_011520786.1:p.Lys1013Ter
XM_011522485.1:c.3037A>T XP_011520787.1:p.Lys1013Ter
XM_011522485.2:c.3037A>T XP_011520787.1:p.Lys1013Ter
XM_011522486.1:c.3037A>T XP_011520788.1:p.Lys1013Ter
XM_011522486.2:c.3037A>T XP_011520788.1:p.Lys1013Ter
XM_011522487.1:c.2791A>T XP_011520789.1:p.Lys931Ter
XM_011522487.2:c.2791A>T XP_011520789.1:p.Lys931Ter
XM_011522488.1:c.2788A>T XP_011520790.1:p.Lys930Ter
XM_011522488.2:c.2788A>T XP_011520790.1:p.Lys930Ter
XM_011522489.1:c.2788A>T XP_011520791.1:p.Lys930Ter
XM_011522489.2:c.2788A>T XP_011520791.1:p.Lys930Ter
XM_011522490.1:c.2785A>T XP_011520792.1:p.Lys929Ter
XM_011522490.2:c.2785A>T XP_011520792.1:p.Lys929Ter
XM_011522491.1:c.3037A>T XP_011520793.1:p.Lys1013Ter
XM_011522491.2:c.3037A>T XP_011520793.1:p.Lys1013Ter
XM_011522492.1:c.2743A>T XP_011520794.1:p.Lys915Ter
XM_011522492.2:c.2743A>T XP_011520794.1:p.Lys915Ter
XM_011522493.1:c.2740A>T XP_011520795.1:p.Lys914Ter
XM_011522493.2:c.2740A>T XP_011520795.1:p.Lys914Ter
XM_011522494.1:c.2671A>T XP_011520796.1:p.Lys891Ter
XM_011522494.2:c.2671A>T XP_011520796.1:p.Lys891Ter
XM_011522495.1:c.2596A>T XP_011520797.1:p.Lys866Ter
XM_011522495.2:c.2596A>T XP_011520797.1:p.Lys866Ter
XM_011522496.1:c.2593A>T XP_011520798.1:p.Lys865Ter
XM_011522496.2:c.2593A>T XP_011520798.1:p.Lys865Ter
XM_024450280.1:c.2983A>T XP_024306048.1:p.Lys995Ter
XM_024450281.1:c.2836A>T XP_024306049.1:p.Lys946Ter
XR_001751904.1:n.3102A>T
XR_932841.1:n.3052A>T
XR_932841.3:n.3054A>T
XR_932842.1:n.3052A>T
XR_932842.2:n.3054A>T
XR_932843.1:n.3052A>T
XR_932846.1:n.3098A>T
XR_932846.3:n.3102A>T
XR_932847.1:n.3098A>T
XR_932847.3:n.3102A>T
XR_932848.1:n.1138A>T