Canonical Allele Identifier: CA1525825975
Gene: FASTKD3 HGNC NCBI
MTRR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7868430T= , CM000667.2:g.7868430T= GRCh38
NC_000005.9:g.7868543T= , CM000667.1:g.7868543T= GRCh37
NC_000005.8:g.7921543T= NCBI36
NG_008856.1:g.4327T=
NG_033101.1:g.5608A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264669.10:c.-113-234A= (FASTKD3) MANE Select ENSP00000264669.5:n.-113-234A=
ENST00000264669.9:c.-113-234A= (FASTKD3) ENSP00000264669.5:n.-113-234A=
ENST00000282110.8:n.32+549A= (FASTKD3)
ENST00000502509.5:n.498+6373T= (MTRR)
ENST00000504695.1:c.-24-323A= (FASTKD3) ENSP00000426008.1:n.-24-323A=
ENST00000507572.1:c.1-398A= (FASTKD3) ENSP00000422443.1:n.1-398A=
ENST00000513658.5:n.48+549A= (FASTKD3)
NM_024091.3:c.-113-234A= (FASTKD3) NP_076996.2:n.-113-234A=
NR_036553.1:n.59+549A= (FASTKD3)
NR_073608.1:n.59+549A= (FASTKD3)
XM_006714498.1:c.-24-323A= (FASTKD3) XP_006714561.1:n.-24-323A=
XM_011514044.1:c.-25-2340T= (MTRR) XP_011512346.1:n.-25-2340T=
XR_427664.1:n.60-234A= (FASTKD3)
XM_024446064.1:c.-25-2340T= (MTRR) XP_024301832.1:n.-25-2340T=
XR_001742253.1:n.60-323A= (FASTKD3)
XR_427664.2:n.60-234A= (FASTKD3)
NM_024091.4:c.-113-234A= (FASTKD3) MANE Select NP_076996.2:n.-113-234A=
NR_036553.2:n.53+549A= (FASTKD3)
NR_073608.2:n.53+549A= (FASTKD3)