Canonical Allele Identifier: CA3195089

Gene: FASTKD3 MTRR

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7866709C>G , CM000667.2:g.7866709C>G	GRCh38
NC_000005.9:g.7866822C>G , CM000667.1:g.7866822C>G	GRCh37
NC_000005.8:g.7919822C>G	NCBI36
NG_008856.1:g.2606C>G
NG_033101.1:g.7329G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264669.10:c.1375G>C (FASTKD3) MANE Select	ENSP00000264669.5:p.Glu459Gln
ENST00000264669.9:c.1375G>C (FASTKD3)	ENSP00000264669.5:p.Glu459Gln
ENST00000282110.8:n.33-726G>C (FASTKD3)
ENST00000502509.5:n.498+4652C>G (MTRR)
ENST00000507036.1:c.1375G>C (FASTKD3)	ENSP00000421798.1:p.Glu459Gln
ENST00000511261.5:c.*638G>C (FASTKD3)	ENSP00000424568.1:n.*638G>C
ENST00000513658.5:n.49-726G>C (FASTKD3)
NM_024091.3:c.1375G>C (FASTKD3)	NP_076996.2:p.Glu459Gln
NR_036553.1:n.60-726G>C (FASTKD3)
NR_073608.1:n.60-726G>C (FASTKD3)
XM_006714498.1:c.1375G>C (FASTKD3)	XP_006714561.1:p.Glu459Gln
XM_011514044.1:c.-25-4061C>G (MTRR)	XP_011512346.1:n.-25-4061C>G
XR_427664.1:n.1547G>C (FASTKD3)
XM_024446064.1:c.-25-4061C>G (MTRR)	XP_024301832.1:n.-25-4061C>G
XR_001742253.1:n.1458G>C (FASTKD3)
XR_427664.2:n.1547G>C (FASTKD3)
NM_024091.4:c.1375G>C (FASTKD3) MANE Select	NP_076996.2:p.Glu459Gln
NR_036553.2:n.54-726G>C (FASTKD3)
NR_073608.2:n.54-726G>C (FASTKD3)