Canonical Allele Identifier: CA386549189
Community Standard Title: NM_001206999.2(CIT):c.367T>G (p.Tyr123Asp)
Gene: CIT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.119857570A>C , CM000674.2:g.119857570A>C GRCh38
NC_000012.11:g.120295374A>C , CM000674.1:g.120295374A>C GRCh37
NC_000012.10:g.118779757A>C NCBI36
NG_029792.1:g.24722T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001206999.2:c.367T>G MANE Select NP_001193928.1:p.Tyr123Asp
ENST00000392521.7:c.367T>G MANE Select ENSP00000376306.2:p.Tyr123Asp
NM_001206999.1:c.367T>G NP_001193928.1:p.Tyr123Asp
NM_007174.2:c.367T>G NP_009105.1:p.Tyr123Asp
NM_007174.3:c.367T>G NP_009105.1:p.Tyr123Asp
ENST00000261833.11:c.367T>G ENSP00000261833.7:p.Tyr123Asp
ENST00000392521.6:c.367T>G ENSP00000376306.2:p.Tyr123Asp
ENST00000536325.1:c.118T>G ENSP00000443199.1:p.Tyr40Asp
ENST00000612548.4:c.367T>G ENSP00000482318.1:p.Tyr123Asp
XM_006719206.2:c.367T>G XP_006719269.1:p.Tyr123Asp
XM_011537783.1:c.367T>G XP_011536085.1:p.Tyr123Asp
XM_011537784.1:c.367T>G XP_011536086.1:p.Tyr123Asp
XM_011537785.1:c.367T>G XP_011536087.1:p.Tyr123Asp
XM_011537786.1:c.367T>G XP_011536088.1:p.Tyr123Asp
XM_011537787.1:c.367T>G XP_011536089.1:p.Tyr123Asp
XM_011537788.1:c.367T>G XP_011536090.1:p.Tyr123Asp
XM_017018735.1:c.367T>G XP_016874224.1:p.Tyr123Asp
XM_017018736.1:c.367T>G XP_016874225.1:p.Tyr123Asp
XM_017018737.1:c.367T>G XP_016874226.1:p.Tyr123Asp