Canonical Allele Identifier: CA7900378
Community Standard Title: NM_000246.4(CIITA):c.2442C>T (p.His814=)
Gene: CIITA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.10907934C>T , CM000678.2:g.10907934C>T GRCh38
NC_000016.9:g.11001791C>T , CM000678.1:g.11001791C>T GRCh37
NC_000016.8:g.10909292C>T NCBI36
NG_009628.1:g.35737C>T , LRG_49:g.35737C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000246.4:c.2442C>T MANE Select NP_000237.2:p.His814=
ENST00000324288.14:c.2442C>T MANE Select ENSP00000316328.8:p.His814=
NM_000246.3:c.2442C>T , LRG_49t1:c.2442C>T NP_000237.2:p.His814=
NM_001286402.1:c.2445C>T NP_001273331.1:p.His815=
NM_001286403.1:c.860-1049C>T NP_001273332.1:n.860-1049C>T
NM_001286403.2:c.860-1049C>T NP_001273332.1:n.860-1049C>T
NM_001379330.1:c.2298C>T NP_001366259.1:p.His766=
NM_001379331.1:c.2295C>T NP_001366260.1:p.His765=
NM_001379332.1:c.2445C>T NP_001366261.1:p.His815=
NM_001379333.1:c.2442C>T NP_001366262.1:p.His814=
NM_001379334.1:c.2373C>T NP_001366263.1:p.His791=
NR_104444.1:n.1140-2254C>T
NR_104444.2:n.1136-2254C>T
ENST00000324288.12:c.2442C>T ENSP00000316328.8:p.His814=
ENST00000381835.9:c.860-1049C>T ENSP00000371257.5:n.860-1049C>T
ENST00000537380.1:n.1007-2254C>T
ENST00000570546.5:n.2563C>T
ENST00000573309.5:n.2413C>T
ENST00000611587.4:c.2298C>T ENSP00000483487.1:p.His766=
ENST00000618207.4:c.1007-2254C>T ENSP00000484761.1:n.1007-2254C>T
ENST00000618327.4:c.2445C>T ENSP00000485010.1:p.His815=
ENST00000695879.1:n.2336C>T
XM_006720880.2:c.2739C>T XP_006720943.2:p.His913=
XM_006720880.3:c.2739C>T XP_006720943.2:p.His913=
XM_011522484.1:c.2739C>T XP_011520786.1:p.His913=
XM_011522484.3:c.2739C>T XP_011520786.1:p.His913=
XM_011522485.1:c.2739C>T XP_011520787.1:p.His913=
XM_011522485.2:c.2739C>T XP_011520787.1:p.His913=
XM_011522486.1:c.2739C>T XP_011520788.1:p.His913=
XM_011522486.2:c.2739C>T XP_011520788.1:p.His913=
XM_011522487.1:c.2493C>T XP_011520789.1:p.His831=
XM_011522487.2:c.2493C>T XP_011520789.1:p.His831=
XM_011522488.1:c.2490C>T XP_011520790.1:p.His830=
XM_011522488.2:c.2490C>T XP_011520790.1:p.His830=
XM_011522489.1:c.2490C>T XP_011520791.1:p.His830=
XM_011522489.2:c.2490C>T XP_011520791.1:p.His830=
XM_011522490.1:c.2487C>T XP_011520792.1:p.His829=
XM_011522490.2:c.2487C>T XP_011520792.1:p.His829=
XM_011522491.1:c.2739C>T XP_011520793.1:p.His913=
XM_011522491.2:c.2739C>T XP_011520793.1:p.His913=
XM_011522492.1:c.2445C>T XP_011520794.1:p.His815=
XM_011522492.2:c.2445C>T XP_011520794.1:p.His815=
XM_011522493.1:c.2442C>T XP_011520795.1:p.His814=
XM_011522493.2:c.2442C>T XP_011520795.1:p.His814=
XM_011522494.1:c.2373C>T XP_011520796.1:p.His791=
XM_011522494.2:c.2373C>T XP_011520796.1:p.His791=
XM_011522495.1:c.2298C>T XP_011520797.1:p.His766=
XM_011522495.2:c.2298C>T XP_011520797.1:p.His766=
XM_011522496.1:c.2295C>T XP_011520798.1:p.His765=
XM_011522496.2:c.2295C>T XP_011520798.1:p.His765=
XM_024450280.1:c.2685C>T XP_024306048.1:p.His895=
XM_024450281.1:c.2538C>T XP_024306049.1:p.His846=
XR_001751904.1:n.2758C>T
XR_932841.1:n.2754C>T
XR_932841.3:n.2756C>T
XR_932842.1:n.2754C>T
XR_932842.2:n.2756C>T
XR_932843.1:n.2754C>T
XR_932846.1:n.2754C>T
XR_932846.3:n.2758C>T
XR_932847.1:n.2754C>T
XR_932847.3:n.2758C>T
XR_932848.1:n.1010-1049C>T