Canonical Allele Identifier: CA113790299
Gene: FASTKD3 HGNC NCBI
MTRR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7867464C>A , CM000667.2:g.7867464C>A GRCh38
NC_000005.9:g.7867577C>A , CM000667.1:g.7867577C>A GRCh37
NC_000005.8:g.7920577C>A NCBI36
NG_008856.1:g.3361C>A
NG_033101.1:g.6574G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264669.10:c.620G>T (FASTKD3) MANE Select ENSP00000264669.5:p.Arg207Leu
ENST00000264669.9:c.620G>T (FASTKD3) ENSP00000264669.5:p.Arg207Leu
ENST00000282110.8:n.33-1481G>T (FASTKD3)
ENST00000502509.5:n.498+5407C>A (MTRR)
ENST00000504695.1:c.620G>T (FASTKD3) ENSP00000426008.1:p.Arg207Leu
ENST00000507036.1:c.620G>T (FASTKD3) ENSP00000421798.1:p.Arg207Leu
ENST00000511261.5:c.132-75G>T (FASTKD3) ENSP00000424568.1:n.132-75G>T
ENST00000513658.5:n.49-1481G>T (FASTKD3)
NM_024091.3:c.620G>T (FASTKD3) NP_076996.2:p.Arg207Leu
NR_036553.1:n.60-1481G>T (FASTKD3)
NR_073608.1:n.60-1481G>T (FASTKD3)
XM_006714498.1:c.620G>T (FASTKD3) XP_006714561.1:p.Arg207Leu
XM_011514044.1:c.-25-3306C>A (MTRR) XP_011512346.1:n.-25-3306C>A
XR_427664.1:n.792G>T (FASTKD3)
XM_024446064.1:c.-25-3306C>A (MTRR) XP_024301832.1:n.-25-3306C>A
XR_001742253.1:n.703G>T (FASTKD3)
XR_427664.2:n.792G>T (FASTKD3)
NM_024091.4:c.620G>T (FASTKD3) MANE Select NP_076996.2:p.Arg207Leu
NR_036553.2:n.54-1481G>T (FASTKD3)
NR_073608.2:n.54-1481G>T (FASTKD3)