Canonical Allele Identifier: CA394734070
Community Standard Title: NM_000246.4(CIITA):c.2657+1G>A
Gene: CIITA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.10908150G>A , CM000678.2:g.10908150G>A GRCh38
NC_000016.9:g.11002007G>A , CM000678.1:g.11002007G>A GRCh37
NC_000016.8:g.10909508G>A NCBI36
NG_009628.1:g.35953G>A , LRG_49:g.35953G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000246.4:c.2657+1G>A MANE Select NP_000237.2:n.2657+1G>A
ENST00000324288.14:c.2657+1G>A MANE Select ENSP00000316328.8:n.2657+1G>A
NM_000246.3:c.2657+1G>A , LRG_49t1:c.2657+1G>A NP_000237.2:n.2657+1G>A
NM_001286402.1:c.2660+1G>A NP_001273331.1:n.2660+1G>A
NM_001286403.1:c.860-833G>A NP_001273332.1:n.860-833G>A
NM_001286403.2:c.860-833G>A NP_001273332.1:n.860-833G>A
NM_001379330.1:c.2513+1G>A NP_001366259.1:n.2513+1G>A
NM_001379331.1:c.2510+1G>A NP_001366260.1:n.2510+1G>A
NM_001379332.1:c.2660+1G>A NP_001366261.1:n.2660+1G>A
NM_001379333.1:c.2657+1G>A NP_001366262.1:n.2657+1G>A
NM_001379334.1:c.2588+1G>A NP_001366263.1:n.2588+1G>A
NR_104444.1:n.1140-2038G>A
NR_104444.2:n.1136-2038G>A
ENST00000324288.12:c.2657+1G>A ENSP00000316328.8:n.2657+1G>A
ENST00000381835.9:c.860-833G>A ENSP00000371257.5:n.860-833G>A
ENST00000537380.1:n.1007-2038G>A
ENST00000570546.5:n.2779G>A
ENST00000573309.5:n.2629G>A
ENST00000611587.4:c.2514G>A ENSP00000483487.1:p.Arg838=
ENST00000618207.4:c.1007-2038G>A ENSP00000484761.1:n.1007-2038G>A
ENST00000618327.4:c.2660+1G>A ENSP00000485010.1:n.2660+1G>A
ENST00000695879.1:n.2552G>A
XM_006720880.2:c.2954+1G>A XP_006720943.2:n.2954+1G>A
XM_006720880.3:c.2954+1G>A XP_006720943.2:n.2954+1G>A
XM_011522484.1:c.2954+1G>A XP_011520786.1:n.2954+1G>A
XM_011522484.3:c.2954+1G>A XP_011520786.1:n.2954+1G>A
XM_011522485.1:c.2954+1G>A XP_011520787.1:n.2954+1G>A
XM_011522485.2:c.2954+1G>A XP_011520787.1:n.2954+1G>A
XM_011522486.1:c.2954+1G>A XP_011520788.1:n.2954+1G>A
XM_011522486.2:c.2954+1G>A XP_011520788.1:n.2954+1G>A
XM_011522487.1:c.2708+1G>A XP_011520789.1:n.2708+1G>A
XM_011522487.2:c.2708+1G>A XP_011520789.1:n.2708+1G>A
XM_011522488.1:c.2705+1G>A XP_011520790.1:n.2705+1G>A
XM_011522488.2:c.2705+1G>A XP_011520790.1:n.2705+1G>A
XM_011522489.1:c.2705+1G>A XP_011520791.1:n.2705+1G>A
XM_011522489.2:c.2705+1G>A XP_011520791.1:n.2705+1G>A
XM_011522490.1:c.2702+1G>A XP_011520792.1:n.2702+1G>A
XM_011522490.2:c.2702+1G>A XP_011520792.1:n.2702+1G>A
XM_011522491.1:c.2954+1G>A XP_011520793.1:n.2954+1G>A
XM_011522491.2:c.2954+1G>A XP_011520793.1:n.2954+1G>A
XM_011522492.1:c.2660+1G>A XP_011520794.1:n.2660+1G>A
XM_011522492.2:c.2660+1G>A XP_011520794.1:n.2660+1G>A
XM_011522493.1:c.2657+1G>A XP_011520795.1:n.2657+1G>A
XM_011522493.2:c.2657+1G>A XP_011520795.1:n.2657+1G>A
XM_011522494.1:c.2588+1G>A XP_011520796.1:n.2588+1G>A
XM_011522494.2:c.2588+1G>A XP_011520796.1:n.2588+1G>A
XM_011522495.1:c.2513+1G>A XP_011520797.1:n.2513+1G>A
XM_011522495.2:c.2513+1G>A XP_011520797.1:n.2513+1G>A
XM_011522496.1:c.2510+1G>A XP_011520798.1:n.2510+1G>A
XM_011522496.2:c.2510+1G>A XP_011520798.1:n.2510+1G>A
XM_024450280.1:c.2900+1G>A XP_024306048.1:n.2900+1G>A
XM_024450281.1:c.2753+1G>A XP_024306049.1:n.2753+1G>A
XR_001751904.1:n.2973+1G>A
XR_932841.1:n.2969+1G>A
XR_932841.3:n.2971+1G>A
XR_932842.1:n.2969+1G>A
XR_932842.2:n.2971+1G>A
XR_932843.1:n.2969+1G>A
XR_932846.1:n.2969+1G>A
XR_932846.3:n.2973+1G>A
XR_932847.1:n.2969+1G>A
XR_932847.3:n.2973+1G>A
XR_932848.1:n.1010-833G>A