Canonical Allele Identifier: CA493599417

Gene: CIITA

Linked Data

• gnomAD v4: 16-10902109-C-T
• MyVariant Identifiers: chr16:g.10995966C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10902109C>T , CM000678.2:g.10902109C>T	GRCh38
NC_000016.9:g.10995966C>T , CM000678.1:g.10995966C>T	GRCh37
NC_000016.8:g.10903467C>T	NCBI36
NG_009628.1:g.29912C>T , LRG_49:g.29912C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695879.1:n.578C>T
ENST00000324288.14:c.553C>T MANE Select	ENSP00000316328.8:p.Leu185=
ENST00000324288.12:c.553C>T	ENSP00000316328.8:p.Leu185=
ENST00000381835.9:c.482-549C>T	ENSP00000371257.5:n.482-549C>T
ENST00000537380.1:n.553C>T
ENST00000570546.5:n.674C>T
ENST00000571186.5:c.*274C>T	ENSP00000459829.1:n.*274C>T
ENST00000573309.5:n.600-549C>T
ENST00000576601.1:c.481C>T	ENSP00000459608.1:p.Leu161=
ENST00000611587.4:c.485-549C>T	ENSP00000483487.1:n.485-549C>T
ENST00000618207.4:c.553C>T	ENSP00000484761.1:p.Leu185=
ENST00000618327.4:c.556C>T	ENSP00000485010.1:p.Leu186=
NM_000246.3:c.553C>T , LRG_49t1:c.553C>T	NP_000237.2:p.Leu185=
NM_001286402.1:c.556C>T	NP_001273331.1:p.Leu186=
NM_001286403.1:c.482-549C>T	NP_001273332.1:n.482-549C>T
NR_104444.1:n.686C>T
XM_006720880.2:c.850C>T	XP_006720943.2:p.Leu284=
XM_011522484.1:c.850C>T	XP_011520786.1:p.Leu284=
XM_011522485.1:c.850C>T	XP_011520787.1:p.Leu284=
XM_011522486.1:c.850C>T	XP_011520788.1:p.Leu284=
XM_011522487.1:c.680-549C>T	XP_011520789.1:n.680-549C>T
XM_011522488.1:c.601C>T	XP_011520790.1:p.Leu201=
XM_011522489.1:c.677-549C>T	XP_011520791.1:n.677-549C>T
XM_011522490.1:c.598C>T	XP_011520792.1:p.Leu200=
XM_011522491.1:c.850C>T	XP_011520793.1:p.Leu284=
XM_011522492.1:c.556C>T	XP_011520794.1:p.Leu186=
XM_011522493.1:c.553C>T	XP_011520795.1:p.Leu185=
XM_011522494.1:c.484C>T	XP_011520796.1:p.Leu162=
XM_011522495.1:c.485-549C>T	XP_011520797.1:n.485-549C>T
XM_011522496.1:c.482-549C>T	XP_011520798.1:n.482-549C>T
XR_932841.1:n.865C>T
XR_932842.1:n.865C>T
XR_932843.1:n.865C>T
XR_932846.1:n.865C>T
XR_932847.1:n.865C>T
XR_932848.1:n.632-549C>T
XM_006720880.3:c.850C>T	XP_006720943.2:p.Leu284=
XM_011522484.3:c.850C>T	XP_011520786.1:p.Leu284=
XM_011522485.2:c.850C>T	XP_011520787.1:p.Leu284=
XM_011522486.2:c.850C>T	XP_011520788.1:p.Leu284=
XM_011522487.2:c.680-549C>T	XP_011520789.1:n.680-549C>T
XM_011522488.2:c.601C>T	XP_011520790.1:p.Leu201=
XM_011522489.2:c.677-549C>T	XP_011520791.1:n.677-549C>T
XM_011522490.2:c.598C>T	XP_011520792.1:p.Leu200=
XM_011522491.2:c.850C>T	XP_011520793.1:p.Leu284=
XM_011522492.2:c.556C>T	XP_011520794.1:p.Leu186=
XM_011522493.2:c.553C>T	XP_011520795.1:p.Leu185=
XM_011522494.2:c.484C>T	XP_011520796.1:p.Leu162=
XM_011522495.2:c.485-549C>T	XP_011520797.1:n.485-549C>T
XM_011522496.2:c.482-549C>T	XP_011520798.1:n.482-549C>T
XM_024450280.1:c.796C>T	XP_024306048.1:p.Leu266=
XM_024450281.1:c.725-549C>T	XP_024306049.1:n.725-549C>T
XR_001751904.1:n.869C>T
XR_932841.3:n.867C>T
XR_932842.2:n.867C>T
XR_932846.3:n.869C>T
XR_932847.3:n.869C>T
NM_001286403.2:c.482-549C>T	NP_001273332.1:n.482-549C>T
NR_104444.2:n.682C>T
NM_000246.4:c.553C>T MANE Select	NP_000237.2:p.Leu185=
NM_001379330.1:c.485-549C>T	NP_001366259.1:n.485-549C>T
NM_001379331.1:c.482-549C>T	NP_001366260.1:n.482-549C>T
NM_001379332.1:c.556C>T	NP_001366261.1:p.Leu186=
NM_001379333.1:c.553C>T	NP_001366262.1:p.Leu185=
NM_001379334.1:c.484C>T	NP_001366263.1:p.Leu162=