Canonical Allele Identifier: CA6820854

Gene: CIT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.119701660C>T , CM000674.2:g.119701660C>T	GRCh38
NC_000012.11:g.120139465C>T , CM000674.1:g.120139465C>T	GRCh37
NC_000012.10:g.118623848C>T	NCBI36
NG_029792.1:g.180631G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392521.7:c.5506G>A MANE Select	ENSP00000376306.2:p.Ala1836Thr
ENST00000545913.6:n.7669G>A
ENST00000676693.1:n.2832G>A
ENST00000676833.1:n.4866G>A
ENST00000676849.1:c.4123G>A	ENSP00000503214.1:p.Ala1375Thr
ENST00000677438.1:c.*4612G>A	ENSP00000504095.1:n.*4612G>A
ENST00000677738.1:n.2703G>A
ENST00000677742.1:n.816G>A
ENST00000677812.1:c.*4726G>A	ENSP00000504400.1:n.*4726G>A
ENST00000677849.1:c.*4612G>A	ENSP00000503820.1:n.*4612G>A
ENST00000677993.1:c.4111G>A	ENSP00000503765.1:p.Ala1371Thr
ENST00000678087.1:c.3997G>A	ENSP00000503863.1:p.Ala1333Thr
ENST00000678236.1:n.6966G>A
ENST00000678494.1:c.1227-14626G>A	ENSP00000503854.1:n.1227-14626G>A
ENST00000678652.1:c.4123G>A	ENSP00000504849.1:p.Ala1375Thr
ENST00000678677.1:c.3910G>A	ENSP00000503253.1:p.Ala1304Thr
ENST00000679120.1:c.*3513G>A	ENSP00000502891.1:n.*3513G>A
ENST00000679249.1:c.4123G>A	ENSP00000503976.1:p.Ala1375Thr
ENST00000679285.1:n.3002G>A
ENST00000261833.11:c.5380G>A	ENSP00000261833.7:p.Ala1794Thr
ENST00000392520.2:c.4218G>A
ENST00000392521.6:c.5506G>A	ENSP00000376306.2:p.Ala1836Thr
ENST00000537607.5:n.4233G>A
ENST00000545913.5:n.5377G>A
ENST00000612548.4:c.1442-13596G>A	ENSP00000482318.1:n.1442-13596G>A
NM_001206999.1:c.5506G>A	NP_001193928.1:p.Ala1836Thr
NM_007174.2:c.5380G>A	NP_009105.1:p.Ala1794Thr
XM_006719206.2:c.5461G>A	XP_006719269.1:p.Ala1821Thr
XM_011537783.1:c.5551G>A	XP_011536085.1:p.Ala1851Thr
XM_011537784.1:c.5551G>A	XP_011536086.1:p.Ala1851Thr
XM_011537785.1:c.5506G>A	XP_011536087.1:p.Ala1836Thr
XM_011537786.1:c.5425G>A	XP_011536088.1:p.Ala1809Thr
XM_011537787.1:c.5335G>A	XP_011536089.1:p.Ala1779Thr
XM_011537788.1:c.5335G>A	XP_011536090.1:p.Ala1779Thr
XM_011537789.1:c.4213G>A	XP_011536091.1:p.Ala1405Thr
XM_011537790.1:c.4213G>A	XP_011536092.1:p.Ala1405Thr
XM_011537791.1:c.4153G>A	XP_011536093.1:p.Ala1385Thr
XM_011537792.1:c.3937G>A	XP_011536094.1:p.Ala1313Thr
XM_011537790.2:c.4213G>A	XP_011536092.1:p.Ala1405Thr
XM_011537791.2:c.4153G>A	XP_011536093.1:p.Ala1385Thr
XM_011537792.2:c.3937G>A	XP_011536094.1:p.Ala1313Thr
XM_017018735.1:c.5506G>A	XP_016874224.1:p.Ala1836Thr
XM_017018736.1:c.5506G>A	XP_016874225.1:p.Ala1836Thr
XM_017018737.1:c.5461G>A	XP_016874226.1:p.Ala1821Thr
XM_017018738.1:c.4027G>A	XP_016874227.1:p.Ala1343Thr
XM_017018739.1:c.3937G>A	XP_016874228.1:p.Ala1313Thr
NM_001206999.2:c.5506G>A MANE Select	NP_001193928.1:p.Ala1836Thr
NM_007174.3:c.5380G>A	NP_009105.1:p.Ala1794Thr