Canonical Allele Identifier: CA493695425
Community Standard Title: NM_000246.4(CIITA):c.2157C>A (p.Ala719=)
Gene: CIITA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.10907649C>A , CM000678.2:g.10907649C>A GRCh38
NC_000016.9:g.11001506C>A , CM000678.1:g.11001506C>A GRCh37
NC_000016.8:g.10909007C>A NCBI36
NG_009628.1:g.35452C>A , LRG_49:g.35452C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000246.4:c.2157C>A MANE Select NP_000237.2:p.Ala719=
ENST00000324288.14:c.2157C>A MANE Select ENSP00000316328.8:p.Ala719=
NM_000246.3:c.2157C>A , LRG_49t1:c.2157C>A NP_000237.2:p.Ala719=
NM_001286402.1:c.2160C>A NP_001273331.1:p.Ala720=
NM_001286403.1:c.860-1334C>A NP_001273332.1:n.860-1334C>A
NM_001286403.2:c.860-1334C>A NP_001273332.1:n.860-1334C>A
NM_001379330.1:c.2013C>A NP_001366259.1:p.Ala671=
NM_001379331.1:c.2010C>A NP_001366260.1:p.Ala670=
NM_001379332.1:c.2160C>A NP_001366261.1:p.Ala720=
NM_001379333.1:c.2157C>A NP_001366262.1:p.Ala719=
NM_001379334.1:c.2088C>A NP_001366263.1:p.Ala696=
NR_104444.1:n.1140-2539C>A
NR_104444.2:n.1136-2539C>A
ENST00000324288.12:c.2157C>A ENSP00000316328.8:p.Ala719=
ENST00000381835.9:c.860-1334C>A ENSP00000371257.5:n.860-1334C>A
ENST00000537380.1:n.1007-2539C>A
ENST00000570546.5:n.2278C>A
ENST00000573309.5:n.2128C>A
ENST00000611587.4:c.2013C>A ENSP00000483487.1:p.Ala671=
ENST00000618207.4:c.1007-2539C>A ENSP00000484761.1:n.1007-2539C>A
ENST00000618327.4:c.2160C>A ENSP00000485010.1:p.Ala720=
ENST00000695879.1:n.2051C>A
XM_006720880.2:c.2454C>A XP_006720943.2:p.Ala818=
XM_006720880.3:c.2454C>A XP_006720943.2:p.Ala818=
XM_011522484.1:c.2454C>A XP_011520786.1:p.Ala818=
XM_011522484.3:c.2454C>A XP_011520786.1:p.Ala818=
XM_011522485.1:c.2454C>A XP_011520787.1:p.Ala818=
XM_011522485.2:c.2454C>A XP_011520787.1:p.Ala818=
XM_011522486.1:c.2454C>A XP_011520788.1:p.Ala818=
XM_011522486.2:c.2454C>A XP_011520788.1:p.Ala818=
XM_011522487.1:c.2208C>A XP_011520789.1:p.Ala736=
XM_011522487.2:c.2208C>A XP_011520789.1:p.Ala736=
XM_011522488.1:c.2205C>A XP_011520790.1:p.Ala735=
XM_011522488.2:c.2205C>A XP_011520790.1:p.Ala735=
XM_011522489.1:c.2205C>A XP_011520791.1:p.Ala735=
XM_011522489.2:c.2205C>A XP_011520791.1:p.Ala735=
XM_011522490.1:c.2202C>A XP_011520792.1:p.Ala734=
XM_011522490.2:c.2202C>A XP_011520792.1:p.Ala734=
XM_011522491.1:c.2454C>A XP_011520793.1:p.Ala818=
XM_011522491.2:c.2454C>A XP_011520793.1:p.Ala818=
XM_011522492.1:c.2160C>A XP_011520794.1:p.Ala720=
XM_011522492.2:c.2160C>A XP_011520794.1:p.Ala720=
XM_011522493.1:c.2157C>A XP_011520795.1:p.Ala719=
XM_011522493.2:c.2157C>A XP_011520795.1:p.Ala719=
XM_011522494.1:c.2088C>A XP_011520796.1:p.Ala696=
XM_011522494.2:c.2088C>A XP_011520796.1:p.Ala696=
XM_011522495.1:c.2013C>A XP_011520797.1:p.Ala671=
XM_011522495.2:c.2013C>A XP_011520797.1:p.Ala671=
XM_011522496.1:c.2010C>A XP_011520798.1:p.Ala670=
XM_011522496.2:c.2010C>A XP_011520798.1:p.Ala670=
XM_024450280.1:c.2400C>A XP_024306048.1:p.Ala800=
XM_024450281.1:c.2253C>A XP_024306049.1:p.Ala751=
XR_001751904.1:n.2473C>A
XR_932841.1:n.2469C>A
XR_932841.3:n.2471C>A
XR_932842.1:n.2469C>A
XR_932842.2:n.2471C>A
XR_932843.1:n.2469C>A
XR_932846.1:n.2469C>A
XR_932846.3:n.2473C>A
XR_932847.1:n.2469C>A
XR_932847.3:n.2473C>A
XR_932848.1:n.1010-1334C>A