Canonical Allele Identifier: CA386534932
Gene: CIT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.119710323G>A , CM000674.2:g.119710323G>A GRCh38
NC_000012.11:g.120148128G>A , CM000674.1:g.120148128G>A GRCh37
NC_000012.10:g.118632511G>A NCBI36
NG_029792.1:g.171968C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001206999.2:c.4999C>T MANE Select NP_001193928.1:p.His1667Tyr
ENST00000392521.7:c.4999C>T MANE Select ENSP00000376306.2:p.His1667Tyr
NM_001206999.1:c.4999C>T NP_001193928.1:p.His1667Tyr
NM_007174.2:c.4873C>T NP_009105.1:p.His1625Tyr
NM_007174.3:c.4873C>T NP_009105.1:p.His1625Tyr
ENST00000261833.11:c.4873C>T ENSP00000261833.7:p.His1625Tyr
ENST00000392520.2:c.3711C>T
ENST00000392521.6:c.4999C>T ENSP00000376306.2:p.His1667Tyr
ENST00000537607.5:n.3726C>T
ENST00000538073.5:n.193+217C>T
ENST00000543324.1:n.191C>T
ENST00000543324.2:n.1556C>T
ENST00000544800.1:n.536C>T
ENST00000545913.5:n.4870C>T
ENST00000545913.6:n.7162C>T
ENST00000612548.4:c.1442-22259C>T ENSP00000482318.1:n.1442-22259C>T
ENST00000676693.1:n.2397+217C>T
ENST00000676833.1:n.4359C>T
ENST00000676849.1:c.3616C>T ENSP00000503214.1:p.His1206Tyr
ENST00000677438.1:c.*4105C>T ENSP00000504095.1:n.*4105C>T
ENST00000677738.1:n.2196C>T
ENST00000677742.1:n.309C>T
ENST00000677812.1:c.*4219C>T ENSP00000504400.1:n.*4219C>T
ENST00000677849.1:c.*4105C>T ENSP00000503820.1:n.*4105C>T
ENST00000677993.1:c.3604C>T ENSP00000503765.1:p.His1202Tyr
ENST00000678087.1:c.3490C>T ENSP00000503863.1:p.His1164Tyr
ENST00000678236.1:n.6459C>T
ENST00000678494.1:c.1227-23289C>T ENSP00000503854.1:n.1227-23289C>T
ENST00000678652.1:c.3616C>T ENSP00000504849.1:p.His1206Tyr
ENST00000678677.1:c.3403C>T ENSP00000503253.1:p.His1135Tyr
ENST00000679120.1:c.*3006C>T ENSP00000502891.1:n.*3006C>T
ENST00000679249.1:c.3616C>T ENSP00000503976.1:p.His1206Tyr
ENST00000679285.1:n.2495C>T
XM_006719206.2:c.4954C>T XP_006719269.1:p.His1652Tyr
XM_011537783.1:c.5044C>T XP_011536085.1:p.His1682Tyr
XM_011537784.1:c.5044C>T XP_011536086.1:p.His1682Tyr
XM_011537785.1:c.4999C>T XP_011536087.1:p.His1667Tyr
XM_011537786.1:c.4918C>T XP_011536088.1:p.His1640Tyr
XM_011537787.1:c.4828C>T XP_011536089.1:p.His1610Tyr
XM_011537788.1:c.4828C>T XP_011536090.1:p.His1610Tyr
XM_011537789.1:c.3706C>T XP_011536091.1:p.His1236Tyr
XM_011537790.1:c.3706C>T XP_011536092.1:p.His1236Tyr
XM_011537790.2:c.3706C>T XP_011536092.1:p.His1236Tyr
XM_011537791.1:c.3646C>T XP_011536093.1:p.His1216Tyr
XM_011537791.2:c.3646C>T XP_011536093.1:p.His1216Tyr
XM_011537792.1:c.3430C>T XP_011536094.1:p.His1144Tyr
XM_011537792.2:c.3430C>T XP_011536094.1:p.His1144Tyr
XM_017018735.1:c.4999C>T XP_016874224.1:p.His1667Tyr
XM_017018736.1:c.4999C>T XP_016874225.1:p.His1667Tyr
XM_017018737.1:c.4954C>T XP_016874226.1:p.His1652Tyr
XM_017018738.1:c.3520C>T XP_016874227.1:p.His1174Tyr
XM_017018739.1:c.3430C>T XP_016874228.1:p.His1144Tyr