Canonical Allele Identifier: CA244354295
Community Standard Title: NM_001206999.2(CIT):c.4579+104A>G
Gene: CIT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.119713099T>C , CM000674.2:g.119713099T>C GRCh38
NC_000012.11:g.120150904T>C , CM000674.1:g.120150904T>C GRCh37
NC_000012.10:g.118635287T>C NCBI36
NG_029792.1:g.169192A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001206999.2:c.4579+104A>G MANE Select NP_001193928.1:n.4579+104A>G
ENST00000392521.7:c.4579+104A>G MANE Select ENSP00000376306.2:n.4579+104A>G
NM_001206999.1:c.4579+104A>G NP_001193928.1:n.4579+104A>G
NM_007174.2:c.4453+104A>G NP_009105.1:n.4453+104A>G
NM_007174.3:c.4453+104A>G NP_009105.1:n.4453+104A>G
ENST00000261833.11:c.4453+104A>G ENSP00000261833.7:n.4453+104A>G
ENST00000392520.2:c.3291+104A>G
ENST00000392521.6:c.4579+104A>G ENSP00000376306.2:n.4579+104A>G
ENST00000536008.1:n.487A>G
ENST00000537607.5:n.3306+104A>G
ENST00000543239.1:n.443+104A>G
ENST00000543324.2:n.1136+104A>G
ENST00000545913.5:n.4450+104A>G
ENST00000545913.6:n.5185+104A>G
ENST00000612548.4:c.1442-25035A>G ENSP00000482318.1:n.1442-25035A>G
ENST00000676693.1:n.1996+104A>G
ENST00000676833.1:n.3696+104A>G
ENST00000676849.1:c.3196+104A>G ENSP00000503214.1:n.3196+104A>G
ENST00000677438.1:c.*3685+104A>G ENSP00000504095.1:n.*3685+104A>G
ENST00000677738.1:n.1731+104A>G
ENST00000677812.1:c.*3799+104A>G ENSP00000504400.1:n.*3799+104A>G
ENST00000677849.1:c.*3685+104A>G ENSP00000503820.1:n.*3685+104A>G
ENST00000677993.1:c.3184+104A>G ENSP00000503765.1:n.3184+104A>G
ENST00000678087.1:c.3070+104A>G ENSP00000503863.1:n.3070+104A>G
ENST00000678236.1:n.4482+104A>G
ENST00000678494.1:c.1227-26065A>G ENSP00000503854.1:n.1227-26065A>G
ENST00000678652.1:c.3196+104A>G ENSP00000504849.1:n.3196+104A>G
ENST00000678677.1:c.3186+114A>G ENSP00000503253.1:n.3186+114A>G
ENST00000679120.1:c.*2586+104A>G ENSP00000502891.1:n.*2586+104A>G
ENST00000679249.1:c.3196+104A>G ENSP00000503976.1:n.3196+104A>G
ENST00000679285.1:n.2030+104A>G
XM_006719206.2:c.4534+104A>G XP_006719269.1:n.4534+104A>G
XM_011537783.1:c.4579+104A>G XP_011536085.1:n.4579+104A>G
XM_011537784.1:c.4579+104A>G XP_011536086.1:n.4579+104A>G
XM_011537785.1:c.4534+104A>G XP_011536087.1:n.4534+104A>G
XM_011537786.1:c.4453+104A>G XP_011536088.1:n.4453+104A>G
XM_011537787.1:c.4408+104A>G XP_011536089.1:n.4408+104A>G
XM_011537788.1:c.4408+104A>G XP_011536090.1:n.4408+104A>G
XM_011537789.1:c.3241+104A>G XP_011536091.1:n.3241+104A>G
XM_011537790.1:c.3241+104A>G XP_011536092.1:n.3241+104A>G
XM_011537790.2:c.3241+104A>G XP_011536092.1:n.3241+104A>G
XM_011537791.1:c.3181+104A>G XP_011536093.1:n.3181+104A>G
XM_011537791.2:c.3181+104A>G XP_011536093.1:n.3181+104A>G
XM_011537792.1:c.3010+104A>G XP_011536094.1:n.3010+104A>G
XM_011537792.2:c.3010+104A>G XP_011536094.1:n.3010+104A>G
XM_017018735.1:c.4579+104A>G XP_016874224.1:n.4579+104A>G
XM_017018736.1:c.4534+104A>G XP_016874225.1:n.4534+104A>G
XM_017018737.1:c.4534+104A>G XP_016874226.1:n.4534+104A>G
XM_017018738.1:c.3055+104A>G XP_016874227.1:n.3055+104A>G
XM_017018739.1:c.3010+104A>G XP_016874228.1:n.3010+104A>G