Canonical Allele Identifier: CA493599408

Gene: CIITA

Linked Data

• gnomAD v4: 16-10902105-C-T
• MyVariant Identifiers: chr16:g.10995962C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10902105C>T , CM000678.2:g.10902105C>T	GRCh38
NC_000016.9:g.10995962C>T , CM000678.1:g.10995962C>T	GRCh37
NC_000016.8:g.10903463C>T	NCBI36
NG_009628.1:g.29908C>T , LRG_49:g.29908C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695879.1:n.574C>T
ENST00000324288.14:c.549C>T MANE Select	ENSP00000316328.8:p.Pro183=
ENST00000324288.12:c.549C>T	ENSP00000316328.8:p.Pro183=
ENST00000381835.9:c.481+547C>T	ENSP00000371257.5:n.481+547C>T
ENST00000537380.1:n.549C>T
ENST00000570546.5:n.670C>T
ENST00000571186.5:c.*270C>T	ENSP00000459829.1:n.*270C>T
ENST00000573309.5:n.599+547C>T
ENST00000576601.1:c.477C>T	ENSP00000459608.1:p.Pro159=
ENST00000611587.4:c.484+547C>T	ENSP00000483487.1:n.484+547C>T
ENST00000618207.4:c.549C>T	ENSP00000484761.1:p.Pro183=
ENST00000618327.4:c.552C>T	ENSP00000485010.1:p.Pro184=
NM_000246.3:c.549C>T , LRG_49t1:c.549C>T	NP_000237.2:p.Pro183=
NM_001286402.1:c.552C>T	NP_001273331.1:p.Pro184=
NM_001286403.1:c.481+547C>T	NP_001273332.1:n.481+547C>T
NR_104444.1:n.682C>T
XM_006720880.2:c.846C>T	XP_006720943.2:p.Pro282=
XM_011522484.1:c.846C>T	XP_011520786.1:p.Pro282=
XM_011522485.1:c.846C>T	XP_011520787.1:p.Pro282=
XM_011522486.1:c.846C>T	XP_011520788.1:p.Pro282=
XM_011522487.1:c.679+547C>T	XP_011520789.1:n.679+547C>T
XM_011522488.1:c.597C>T	XP_011520790.1:p.Pro199=
XM_011522489.1:c.676+547C>T	XP_011520791.1:n.676+547C>T
XM_011522490.1:c.594C>T	XP_011520792.1:p.Pro198=
XM_011522491.1:c.846C>T	XP_011520793.1:p.Pro282=
XM_011522492.1:c.552C>T	XP_011520794.1:p.Pro184=
XM_011522493.1:c.549C>T	XP_011520795.1:p.Pro183=
XM_011522494.1:c.480C>T	XP_011520796.1:p.Pro160=
XM_011522495.1:c.484+547C>T	XP_011520797.1:n.484+547C>T
XM_011522496.1:c.481+547C>T	XP_011520798.1:n.481+547C>T
XR_932841.1:n.861C>T
XR_932842.1:n.861C>T
XR_932843.1:n.861C>T
XR_932846.1:n.861C>T
XR_932847.1:n.861C>T
XR_932848.1:n.631+547C>T
XM_006720880.3:c.846C>T	XP_006720943.2:p.Pro282=
XM_011522484.3:c.846C>T	XP_011520786.1:p.Pro282=
XM_011522485.2:c.846C>T	XP_011520787.1:p.Pro282=
XM_011522486.2:c.846C>T	XP_011520788.1:p.Pro282=
XM_011522487.2:c.679+547C>T	XP_011520789.1:n.679+547C>T
XM_011522488.2:c.597C>T	XP_011520790.1:p.Pro199=
XM_011522489.2:c.676+547C>T	XP_011520791.1:n.676+547C>T
XM_011522490.2:c.594C>T	XP_011520792.1:p.Pro198=
XM_011522491.2:c.846C>T	XP_011520793.1:p.Pro282=
XM_011522492.2:c.552C>T	XP_011520794.1:p.Pro184=
XM_011522493.2:c.549C>T	XP_011520795.1:p.Pro183=
XM_011522494.2:c.480C>T	XP_011520796.1:p.Pro160=
XM_011522495.2:c.484+547C>T	XP_011520797.1:n.484+547C>T
XM_011522496.2:c.481+547C>T	XP_011520798.1:n.481+547C>T
XM_024450280.1:c.792C>T	XP_024306048.1:p.Pro264=
XM_024450281.1:c.724+547C>T	XP_024306049.1:n.724+547C>T
XR_001751904.1:n.865C>T
XR_932841.3:n.863C>T
XR_932842.2:n.863C>T
XR_932846.3:n.865C>T
XR_932847.3:n.865C>T
NM_001286403.2:c.481+547C>T	NP_001273332.1:n.481+547C>T
NR_104444.2:n.678C>T
NM_000246.4:c.549C>T MANE Select	NP_000237.2:p.Pro183=
NM_001379330.1:c.484+547C>T	NP_001366259.1:n.484+547C>T
NM_001379331.1:c.481+547C>T	NP_001366260.1:n.481+547C>T
NM_001379332.1:c.552C>T	NP_001366261.1:p.Pro184=
NM_001379333.1:c.549C>T	NP_001366262.1:p.Pro183=
NM_001379334.1:c.480C>T	NP_001366263.1:p.Pro160=