Canonical Allele Identifier: CA359149957
Gene: FASTKD3 HGNC NCBI
MTRR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7866674G>C , CM000667.2:g.7866674G>C GRCh38
NC_000005.9:g.7866787G>C , CM000667.1:g.7866787G>C GRCh37
NC_000005.8:g.7919787G>C NCBI36
NG_008856.1:g.2571G>C
NG_033101.1:g.7364C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264669.10:c.1410C>G (FASTKD3) MANE Select ENSP00000264669.5:p.Phe470Leu
ENST00000264669.9:c.1410C>G (FASTKD3) ENSP00000264669.5:p.Phe470Leu
ENST00000282110.8:n.33-691C>G (FASTKD3)
ENST00000502509.5:n.498+4617G>C (MTRR)
ENST00000507036.1:c.1410C>G (FASTKD3) ENSP00000421798.1:p.Phe470Leu
ENST00000511261.5:c.*673C>G (FASTKD3) ENSP00000424568.1:n.*673C>G
ENST00000513658.5:n.49-691C>G (FASTKD3)
NM_024091.3:c.1410C>G (FASTKD3) NP_076996.2:p.Phe470Leu
NR_036553.1:n.60-691C>G (FASTKD3)
NR_073608.1:n.60-691C>G (FASTKD3)
XM_006714498.1:c.1410C>G (FASTKD3) XP_006714561.1:p.Phe470Leu
XM_011514044.1:c.-25-4096G>C (MTRR) XP_011512346.1:n.-25-4096G>C
XR_427664.1:n.1582C>G (FASTKD3)
XM_024446064.1:c.-25-4096G>C (MTRR) XP_024301832.1:n.-25-4096G>C
XR_001742253.1:n.1493C>G (FASTKD3)
XR_427664.2:n.1582C>G (FASTKD3)
NM_024091.4:c.1410C>G (FASTKD3) MANE Select NP_076996.2:p.Phe470Leu
NR_036553.2:n.54-691C>G (FASTKD3)
NR_073608.2:n.54-691C>G (FASTKD3)