Canonical Allele Identifier: CA10586338
Community Standard Title: NM_001206999.2(CIT):c.376A>C (p.Lys126Gln)
Gene: CIT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.119857561T>G , CM000674.2:g.119857561T>G GRCh38
NC_000012.11:g.120295365T>G , CM000674.1:g.120295365T>G GRCh37
NC_000012.10:g.118779748T>G NCBI36
NG_029792.1:g.24731A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001206999.2:c.376A>C MANE Select NP_001193928.1:p.Lys126Gln
ENST00000392521.7:c.376A>C MANE Select ENSP00000376306.2:p.Lys126Gln
NM_001206999.1:c.376A>C NP_001193928.1:p.Lys126Gln
NM_007174.2:c.376A>C NP_009105.1:p.Lys126Gln
NM_007174.3:c.376A>C NP_009105.1:p.Lys126Gln
ENST00000261833.11:c.376A>C ENSP00000261833.7:p.Lys126Gln
ENST00000392521.6:c.376A>C ENSP00000376306.2:p.Lys126Gln
ENST00000536325.1:c.127A>C ENSP00000443199.1:p.Lys43Gln
ENST00000612548.4:c.376A>C ENSP00000482318.1:p.Lys126Gln
XM_006719206.2:c.376A>C XP_006719269.1:p.Lys126Gln
XM_011537783.1:c.376A>C XP_011536085.1:p.Lys126Gln
XM_011537784.1:c.376A>C XP_011536086.1:p.Lys126Gln
XM_011537785.1:c.376A>C XP_011536087.1:p.Lys126Gln
XM_011537786.1:c.376A>C XP_011536088.1:p.Lys126Gln
XM_011537787.1:c.376A>C XP_011536089.1:p.Lys126Gln
XM_011537788.1:c.376A>C XP_011536090.1:p.Lys126Gln
XM_017018735.1:c.376A>C XP_016874224.1:p.Lys126Gln
XM_017018736.1:c.376A>C XP_016874225.1:p.Lys126Gln
XM_017018737.1:c.376A>C XP_016874226.1:p.Lys126Gln