Canonical Allele Identifier: CA3195256

Gene: FASTKD3 MTRR

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7867732A>G , CM000667.2:g.7867732A>G	GRCh38
NC_000005.9:g.7867845A>G , CM000667.1:g.7867845A>G	GRCh37
NC_000005.8:g.7920845A>G	NCBI36
NG_008856.1:g.3629A>G
NG_033101.1:g.6306T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264669.10:c.352T>C (FASTKD3) MANE Select	ENSP00000264669.5:p.Phe118Leu
ENST00000264669.9:c.352T>C (FASTKD3)	ENSP00000264669.5:p.Phe118Leu
ENST00000282110.8:n.32+1247T>C (FASTKD3)
ENST00000502509.5:n.498+5675A>G (MTRR)
ENST00000504695.1:c.352T>C (FASTKD3)	ENSP00000426008.1:p.Phe118Leu
ENST00000507036.1:c.352T>C (FASTKD3)	ENSP00000421798.1:p.Phe118Leu
ENST00000507572.1:c.301T>C (FASTKD3)	ENSP00000422443.1:p.Phe101Leu
ENST00000511261.5:c.131+221T>C (FASTKD3)	ENSP00000424568.1:n.131+221T>C
ENST00000513658.5:n.48+1247T>C (FASTKD3)
NM_024091.3:c.352T>C (FASTKD3)	NP_076996.2:p.Phe118Leu
NR_036553.1:n.59+1247T>C (FASTKD3)
NR_073608.1:n.59+1247T>C (FASTKD3)
XM_006714498.1:c.352T>C (FASTKD3)	XP_006714561.1:p.Phe118Leu
XM_011514044.1:c.-25-3038A>G (MTRR)	XP_011512346.1:n.-25-3038A>G
XR_427664.1:n.524T>C (FASTKD3)
XM_024446064.1:c.-25-3038A>G (MTRR)	XP_024301832.1:n.-25-3038A>G
XR_001742253.1:n.435T>C (FASTKD3)
XR_427664.2:n.524T>C (FASTKD3)
NM_024091.4:c.352T>C (FASTKD3) MANE Select	NP_076996.2:p.Phe118Leu
NR_036553.2:n.53+1247T>C (FASTKD3)
NR_073608.2:n.53+1247T>C (FASTKD3)