Canonical Allele Identifier: CA7900622
Community Standard Title: NM_000246.4(CIITA):c.3012C>T (p.Val1004=)
Gene: CIITA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.10916409C>T , CM000678.2:g.10916409C>T GRCh38
NC_000016.9:g.11010266C>T , CM000678.1:g.11010266C>T GRCh37
NC_000016.8:g.10917767C>T NCBI36
NG_009628.1:g.44212C>T , LRG_49:g.44212C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000246.4:c.3012C>T MANE Select NP_000237.2:p.Val1004=
ENST00000324288.14:c.3012C>T MANE Select ENSP00000316328.8:p.Val1004=
NM_000246.3:c.3012C>T , LRG_49t1:c.3012C>T NP_000237.2:p.Val1004=
NM_001286402.1:c.3015C>T NP_001273331.1:p.Val1005=
NM_001286403.1:c.1260C>T NP_001273332.1:p.Val420=
NM_001286403.2:c.1260C>T NP_001273332.1:p.Val420=
NM_001379330.1:c.2868C>T NP_001366259.1:p.Val956=
NM_001379331.1:c.2865C>T NP_001366260.1:p.Val955=
NM_001379332.1:c.3015C>T NP_001366261.1:p.Val1005=
NM_001379333.1:c.3012C>T NP_001366262.1:p.Val1004=
NM_001379334.1:c.2943C>T NP_001366263.1:p.Val981=
NR_104444.1:n.1335C>T
NR_104444.2:n.1331C>T
ENST00000324288.12:c.3012C>T ENSP00000316328.8:p.Val1004=
ENST00000381835.9:c.1260C>T ENSP00000371257.5:p.Val420=
ENST00000570546.5:n.4012C>T
ENST00000572665.1:n.48C>T
ENST00000618207.4:c.*140C>T ENSP00000484761.1:n.*140C>T
ENST00000618327.4:c.3015C>T ENSP00000485010.1:p.Val1005=
XM_006720880.2:c.3309C>T XP_006720943.2:p.Val1103=
XM_006720880.3:c.3309C>T XP_006720943.2:p.Val1103=
XM_011522484.1:c.3309C>T XP_011520786.1:p.Val1103=
XM_011522484.3:c.3309C>T XP_011520786.1:p.Val1103=
XM_011522485.1:c.3309C>T XP_011520787.1:p.Val1103=
XM_011522485.2:c.3309C>T XP_011520787.1:p.Val1103=
XM_011522486.1:c.3309C>T XP_011520788.1:p.Val1103=
XM_011522486.2:c.3309C>T XP_011520788.1:p.Val1103=
XM_011522487.1:c.3063C>T XP_011520789.1:p.Val1021=
XM_011522487.2:c.3063C>T XP_011520789.1:p.Val1021=
XM_011522488.1:c.3060C>T XP_011520790.1:p.Val1020=
XM_011522488.2:c.3060C>T XP_011520790.1:p.Val1020=
XM_011522489.1:c.3060C>T XP_011520791.1:p.Val1020=
XM_011522489.2:c.3060C>T XP_011520791.1:p.Val1020=
XM_011522490.1:c.3057C>T XP_011520792.1:p.Val1019=
XM_011522490.2:c.3057C>T XP_011520792.1:p.Val1019=
XM_011522491.1:c.3309C>T XP_011520793.1:p.Val1103=
XM_011522491.2:c.3309C>T XP_011520793.1:p.Val1103=
XM_011522492.1:c.3015C>T XP_011520794.1:p.Val1005=
XM_011522492.2:c.3015C>T XP_011520794.1:p.Val1005=
XM_011522493.1:c.3012C>T XP_011520795.1:p.Val1004=
XM_011522493.2:c.3012C>T XP_011520795.1:p.Val1004=
XM_011522494.1:c.2943C>T XP_011520796.1:p.Val981=
XM_011522494.2:c.2943C>T XP_011520796.1:p.Val981=
XM_011522495.1:c.2868C>T XP_011520797.1:p.Val956=
XM_011522495.2:c.2868C>T XP_011520797.1:p.Val956=
XM_011522496.1:c.2865C>T XP_011520798.1:p.Val955=
XM_011522496.2:c.2865C>T XP_011520798.1:p.Val955=
XM_024450280.1:c.3255C>T XP_024306048.1:p.Val1085=
XM_024450281.1:c.3108C>T XP_024306049.1:p.Val1036=
XR_001751904.1:n.3374C>T
XR_932841.1:n.3324C>T
XR_932841.3:n.3326C>T
XR_932842.1:n.3324C>T
XR_932842.2:n.3326C>T
XR_932843.1:n.3324C>T
XR_932846.1:n.3370C>T
XR_932846.3:n.3374C>T
XR_932847.1:n.3370C>T
XR_932847.3:n.3374C>T
XR_932848.1:n.1410C>T