Canonical Allele Identifier: CA7900252
Community Standard Title: NM_000246.4(CIITA):c.1944A>T (p.Ala648=)
Gene: CIITA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.10907436A>T , CM000678.2:g.10907436A>T GRCh38
NC_000016.9:g.11001293A>T , CM000678.1:g.11001293A>T GRCh37
NC_000016.8:g.10908794A>T NCBI36
NG_009628.1:g.35239A>T , LRG_49:g.35239A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000246.4:c.1944A>T MANE Select NP_000237.2:p.Ala648=
ENST00000324288.14:c.1944A>T MANE Select ENSP00000316328.8:p.Ala648=
NM_000246.3:c.1944A>T , LRG_49t1:c.1944A>T NP_000237.2:p.Ala648=
NM_001286402.1:c.1947A>T NP_001273331.1:p.Ala649=
NM_001286403.1:c.860-1547A>T NP_001273332.1:n.860-1547A>T
NM_001286403.2:c.860-1547A>T NP_001273332.1:n.860-1547A>T
NM_001379330.1:c.1800A>T NP_001366259.1:p.Ala600=
NM_001379331.1:c.1797A>T NP_001366260.1:p.Ala599=
NM_001379332.1:c.1947A>T NP_001366261.1:p.Ala649=
NM_001379333.1:c.1944A>T NP_001366262.1:p.Ala648=
NM_001379334.1:c.1875A>T NP_001366263.1:p.Ala625=
NR_104444.1:n.1139+2624A>T
NR_104444.2:n.1135+2624A>T
ENST00000324288.12:c.1944A>T ENSP00000316328.8:p.Ala648=
ENST00000381835.9:c.860-1547A>T ENSP00000371257.5:n.860-1547A>T
ENST00000537380.1:n.1006+2624A>T
ENST00000570546.5:n.2065A>T
ENST00000573309.5:n.1915A>T
ENST00000611587.4:c.1800A>T ENSP00000483487.1:p.Ala600=
ENST00000618207.4:c.1006+2624A>T ENSP00000484761.1:n.1006+2624A>T
ENST00000618327.4:c.1947A>T ENSP00000485010.1:p.Ala649=
ENST00000695879.1:n.1838A>T
XM_006720880.2:c.2241A>T XP_006720943.2:p.Ala747=
XM_006720880.3:c.2241A>T XP_006720943.2:p.Ala747=
XM_011522484.1:c.2241A>T XP_011520786.1:p.Ala747=
XM_011522484.3:c.2241A>T XP_011520786.1:p.Ala747=
XM_011522485.1:c.2241A>T XP_011520787.1:p.Ala747=
XM_011522485.2:c.2241A>T XP_011520787.1:p.Ala747=
XM_011522486.1:c.2241A>T XP_011520788.1:p.Ala747=
XM_011522486.2:c.2241A>T XP_011520788.1:p.Ala747=
XM_011522487.1:c.1995A>T XP_011520789.1:p.Ala665=
XM_011522487.2:c.1995A>T XP_011520789.1:p.Ala665=
XM_011522488.1:c.1992A>T XP_011520790.1:p.Ala664=
XM_011522488.2:c.1992A>T XP_011520790.1:p.Ala664=
XM_011522489.1:c.1992A>T XP_011520791.1:p.Ala664=
XM_011522489.2:c.1992A>T XP_011520791.1:p.Ala664=
XM_011522490.1:c.1989A>T XP_011520792.1:p.Ala663=
XM_011522490.2:c.1989A>T XP_011520792.1:p.Ala663=
XM_011522491.1:c.2241A>T XP_011520793.1:p.Ala747=
XM_011522491.2:c.2241A>T XP_011520793.1:p.Ala747=
XM_011522492.1:c.1947A>T XP_011520794.1:p.Ala649=
XM_011522492.2:c.1947A>T XP_011520794.1:p.Ala649=
XM_011522493.1:c.1944A>T XP_011520795.1:p.Ala648=
XM_011522493.2:c.1944A>T XP_011520795.1:p.Ala648=
XM_011522494.1:c.1875A>T XP_011520796.1:p.Ala625=
XM_011522494.2:c.1875A>T XP_011520796.1:p.Ala625=
XM_011522495.1:c.1800A>T XP_011520797.1:p.Ala600=
XM_011522495.2:c.1800A>T XP_011520797.1:p.Ala600=
XM_011522496.1:c.1797A>T XP_011520798.1:p.Ala599=
XM_011522496.2:c.1797A>T XP_011520798.1:p.Ala599=
XM_024450280.1:c.2187A>T XP_024306048.1:p.Ala729=
XM_024450281.1:c.2040A>T XP_024306049.1:p.Ala680=
XR_001751904.1:n.2260A>T
XR_932841.1:n.2256A>T
XR_932841.3:n.2258A>T
XR_932842.1:n.2256A>T
XR_932842.2:n.2258A>T
XR_932843.1:n.2256A>T
XR_932846.1:n.2256A>T
XR_932846.3:n.2260A>T
XR_932847.1:n.2256A>T
XR_932847.3:n.2260A>T
XR_932848.1:n.1010-1547A>T