Canonical Allele Identifier: CA3195277
Gene: FASTKD3 HGNC NCBI
MTRR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7867828C>A , CM000667.2:g.7867828C>A GRCh38
NC_000005.9:g.7867941C>A , CM000667.1:g.7867941C>A GRCh37
NC_000005.8:g.7920941C>A NCBI36
NG_008856.1:g.3725C>A
NG_033101.1:g.6210G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264669.10:c.256G>T (FASTKD3) MANE Select ENSP00000264669.5:p.Asp86Tyr
ENST00000264669.9:c.256G>T (FASTKD3) ENSP00000264669.5:p.Asp86Tyr
ENST00000282110.8:n.32+1151G>T (FASTKD3)
ENST00000502509.5:n.498+5771C>A (MTRR)
ENST00000504695.1:c.256G>T (FASTKD3) ENSP00000426008.1:p.Asp86Tyr
ENST00000507036.1:c.256G>T (FASTKD3) ENSP00000421798.1:p.Asp86Tyr
ENST00000507572.1:c.205G>T (FASTKD3) ENSP00000422443.1:p.Asp69Tyr
ENST00000511261.5:c.131+125G>T (FASTKD3) ENSP00000424568.1:n.131+125G>T
ENST00000513658.5:n.48+1151G>T (FASTKD3)
NM_024091.3:c.256G>T (FASTKD3) NP_076996.2:p.Asp86Tyr
NR_036553.1:n.59+1151G>T (FASTKD3)
NR_073608.1:n.59+1151G>T (FASTKD3)
XM_006714498.1:c.256G>T (FASTKD3) XP_006714561.1:p.Asp86Tyr
XM_011514044.1:c.-25-2942C>A (MTRR) XP_011512346.1:n.-25-2942C>A
XR_427664.1:n.428G>T (FASTKD3)
XM_024446064.1:c.-25-2942C>A (MTRR) XP_024301832.1:n.-25-2942C>A
XR_001742253.1:n.339G>T (FASTKD3)
XR_427664.2:n.428G>T (FASTKD3)
NM_024091.4:c.256G>T (FASTKD3) MANE Select NP_076996.2:p.Asp86Tyr
NR_036553.2:n.53+1151G>T (FASTKD3)
NR_073608.2:n.53+1151G>T (FASTKD3)