Canonical Allele Identifier: CA3195081
Gene: FASTKD3 HGNC NCBI
MTRR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7866654C>T , CM000667.2:g.7866654C>T GRCh38
NC_000005.9:g.7866767C>T , CM000667.1:g.7866767C>T GRCh37
NC_000005.8:g.7919767C>T NCBI36
NG_008856.1:g.2551C>T
NG_033101.1:g.7384G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264669.10:c.1430G>A (FASTKD3) MANE Select ENSP00000264669.5:p.Arg477Gln
ENST00000264669.9:c.1430G>A (FASTKD3) ENSP00000264669.5:p.Arg477Gln
ENST00000282110.8:n.33-671G>A (FASTKD3)
ENST00000502509.5:n.498+4597C>T (MTRR)
ENST00000507036.1:c.1430G>A (FASTKD3) ENSP00000421798.1:p.Arg477Gln
ENST00000511261.5:c.*693G>A (FASTKD3) ENSP00000424568.1:n.*693G>A
ENST00000513658.5:n.49-671G>A (FASTKD3)
NM_024091.3:c.1430G>A (FASTKD3) NP_076996.2:p.Arg477Gln
NR_036553.1:n.60-671G>A (FASTKD3)
NR_073608.1:n.60-671G>A (FASTKD3)
XM_006714498.1:c.1430G>A (FASTKD3) XP_006714561.1:p.Arg477Gln
XM_011514044.1:c.-25-4116C>T (MTRR) XP_011512346.1:n.-25-4116C>T
XR_427664.1:n.1602G>A (FASTKD3)
XM_024446064.1:c.-25-4116C>T (MTRR) XP_024301832.1:n.-25-4116C>T
XR_001742253.1:n.1513G>A (FASTKD3)
XR_427664.2:n.1602G>A (FASTKD3)
NM_024091.4:c.1430G>A (FASTKD3) MANE Select NP_076996.2:p.Arg477Gln
NR_036553.2:n.54-671G>A (FASTKD3)
NR_073608.2:n.54-671G>A (FASTKD3)