Canonical Allele Identifier: CA7899597
Community Standard Title: NM_000246.4(CIITA):c.199+1G>A
Gene: CIITA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.10895429G>A , CM000678.2:g.10895429G>A GRCh38
NC_000016.9:g.10989286G>A , CM000678.1:g.10989286G>A GRCh37
NC_000016.8:g.10896787G>A NCBI36
NG_009628.1:g.23232G>A , LRG_49:g.23232G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000246.4:c.199+1G>A MANE Select NP_000237.2:n.199+1G>A
ENST00000324288.14:c.199+1G>A MANE Select ENSP00000316328.8:n.199+1G>A
NM_000246.3:c.199+1G>A , LRG_49t1:c.199+1G>A NP_000237.2:n.199+1G>A
NM_001286402.1:c.199+1G>A NP_001273331.1:n.199+1G>A
NM_001286403.1:c.199+1G>A NP_001273332.1:n.199+1G>A
NM_001286403.2:c.199+1G>A NP_001273332.1:n.199+1G>A
NM_001379330.1:c.199+1G>A NP_001366259.1:n.199+1G>A
NM_001379331.1:c.199+1G>A NP_001366260.1:n.199+1G>A
NM_001379332.1:c.199+1G>A NP_001366261.1:n.199+1G>A
NM_001379333.1:c.199+1G>A NP_001366262.1:n.199+1G>A
NM_001379334.1:c.127+1G>A NP_001366263.1:n.127+1G>A
NR_104444.1:n.332+1G>A
NR_104444.2:n.328+1G>A
ENST00000324288.12:c.199+1G>A ENSP00000316328.8:n.199+1G>A
ENST00000381835.9:c.199+1G>A ENSP00000371257.5:n.199+1G>A
ENST00000537380.1:n.199+1G>A
ENST00000570546.5:n.320+1G>A
ENST00000571186.5:c.199+1G>A ENSP00000459829.1:n.199+1G>A
ENST00000573309.5:n.314+1G>A
ENST00000576601.1:c.127+1G>A ENSP00000459608.1:n.127+1G>A
ENST00000611587.4:c.199+1G>A ENSP00000483487.1:n.199+1G>A
ENST00000618207.4:c.199+1G>A ENSP00000484761.1:n.199+1G>A
ENST00000618327.4:c.199+1G>A ENSP00000485010.1:n.199+1G>A
ENST00000636238.1:c.127+1G>A ENSP00000490205.1:n.127+1G>A
ENST00000637439.1:c.430+1G>A ENSP00000489907.1:n.430+1G>A
ENST00000695878.1:n.305G>A
ENST00000695879.1:n.221+1G>A
XM_006720880.2:c.493+1G>A XP_006720943.2:n.493+1G>A
XM_006720880.3:c.493+1G>A XP_006720943.2:n.493+1G>A
XM_011522484.1:c.493+1G>A XP_011520786.1:n.493+1G>A
XM_011522484.3:c.493+1G>A XP_011520786.1:n.493+1G>A
XM_011522485.1:c.493+1G>A XP_011520787.1:n.493+1G>A
XM_011522485.2:c.493+1G>A XP_011520787.1:n.493+1G>A
XM_011522486.1:c.493+1G>A XP_011520788.1:n.493+1G>A
XM_011522486.2:c.493+1G>A XP_011520788.1:n.493+1G>A
XM_011522487.1:c.394+1G>A XP_011520789.1:n.394+1G>A
XM_011522487.2:c.394+1G>A XP_011520789.1:n.394+1G>A
XM_011522488.1:c.244+1G>A XP_011520790.1:n.244+1G>A
XM_011522488.2:c.244+1G>A XP_011520790.1:n.244+1G>A
XM_011522489.1:c.394+1G>A XP_011520791.1:n.394+1G>A
XM_011522489.2:c.394+1G>A XP_011520791.1:n.394+1G>A
XM_011522490.1:c.244+1G>A XP_011520792.1:n.244+1G>A
XM_011522490.2:c.244+1G>A XP_011520792.1:n.244+1G>A
XM_011522491.1:c.493+1G>A XP_011520793.1:n.493+1G>A
XM_011522491.2:c.493+1G>A XP_011520793.1:n.493+1G>A
XM_011522492.1:c.199+1G>A XP_011520794.1:n.199+1G>A
XM_011522492.2:c.199+1G>A XP_011520794.1:n.199+1G>A
XM_011522493.1:c.199+1G>A XP_011520795.1:n.199+1G>A
XM_011522493.2:c.199+1G>A XP_011520795.1:n.199+1G>A
XM_011522494.1:c.127+1G>A XP_011520796.1:n.127+1G>A
XM_011522494.2:c.127+1G>A XP_011520796.1:n.127+1G>A
XM_011522495.1:c.199+1G>A XP_011520797.1:n.199+1G>A
XM_011522495.2:c.199+1G>A XP_011520797.1:n.199+1G>A
XM_011522496.1:c.199+1G>A XP_011520798.1:n.199+1G>A
XM_011522496.2:c.199+1G>A XP_011520798.1:n.199+1G>A
XM_024450280.1:c.200G>A XP_024306048.1:p.Gly67Asp
XM_024450281.1:c.200G>A XP_024306049.1:p.Gly67Asp
XR_001751904.1:n.512+1G>A
XR_002957858.1:n.417-1985C>T
XR_002957859.1:n.417-1985C>T
XR_932841.1:n.508+1G>A
XR_932841.3:n.510+1G>A
XR_932842.1:n.508+1G>A
XR_932842.2:n.510+1G>A
XR_932843.1:n.508+1G>A
XR_932846.1:n.508+1G>A
XR_932846.3:n.512+1G>A
XR_932847.1:n.508+1G>A
XR_932847.3:n.512+1G>A
XR_932848.1:n.349+1G>A