Canonical Allele Identifier: CA6822504

Gene: CIT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.119869155C>T , CM000674.2:g.119869155C>T	GRCh38
NC_000012.11:g.120306959C>T , CM000674.1:g.120306959C>T	GRCh37
NC_000012.10:g.118791342C>T	NCBI36
NG_029792.1:g.13137G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001206999.2:c.143G>A MANE Select	NP_001193928.1:p.Arg48Gln
ENST00000392521.7:c.143G>A MANE Select	ENSP00000376306.2:p.Arg48Gln
NM_001206999.1:c.143G>A	NP_001193928.1:p.Arg48Gln
NM_007174.2:c.143G>A	NP_009105.1:p.Arg48Gln
NM_007174.3:c.143G>A	NP_009105.1:p.Arg48Gln
ENST00000261833.11:c.143G>A	ENSP00000261833.7:p.Arg48Gln
ENST00000392521.6:c.143G>A	ENSP00000376306.2:p.Arg48Gln
ENST00000612548.4:c.143G>A	ENSP00000482318.1:p.Arg48Gln
XM_006719206.2:c.143G>A	XP_006719269.1:p.Arg48Gln
XM_011537783.1:c.143G>A	XP_011536085.1:p.Arg48Gln
XM_011537784.1:c.143G>A	XP_011536086.1:p.Arg48Gln
XM_011537785.1:c.143G>A	XP_011536087.1:p.Arg48Gln
XM_011537786.1:c.143G>A	XP_011536088.1:p.Arg48Gln
XM_011537787.1:c.143G>A	XP_011536089.1:p.Arg48Gln
XM_011537788.1:c.143G>A	XP_011536090.1:p.Arg48Gln
XM_017018735.1:c.143G>A	XP_016874224.1:p.Arg48Gln
XM_017018736.1:c.143G>A	XP_016874225.1:p.Arg48Gln
XM_017018737.1:c.143G>A	XP_016874226.1:p.Arg48Gln