Canonical Allele Identifier: CA359152135
Gene: FASTKD3 HGNC NCBI
MTRR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7867340C>G , CM000667.2:g.7867340C>G GRCh38
NC_000005.9:g.7867453C>G , CM000667.1:g.7867453C>G GRCh37
NC_000005.8:g.7920453C>G NCBI36
NG_008856.1:g.3237C>G
NG_033101.1:g.6698G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264669.10:c.744G>C (FASTKD3) MANE Select ENSP00000264669.5:p.Leu248Phe
ENST00000264669.9:c.744G>C (FASTKD3) ENSP00000264669.5:p.Leu248Phe
ENST00000282110.8:n.33-1357G>C (FASTKD3)
ENST00000502509.5:n.498+5283C>G (MTRR)
ENST00000507036.1:c.744G>C (FASTKD3) ENSP00000421798.1:p.Leu248Phe
ENST00000511261.5:c.*7G>C (FASTKD3) ENSP00000424568.1:n.*7G>C
ENST00000513658.5:n.49-1357G>C (FASTKD3)
NM_024091.3:c.744G>C (FASTKD3) NP_076996.2:p.Leu248Phe
NR_036553.1:n.60-1357G>C (FASTKD3)
NR_073608.1:n.60-1357G>C (FASTKD3)
XM_006714498.1:c.744G>C (FASTKD3) XP_006714561.1:p.Leu248Phe
XM_011514044.1:c.-25-3430C>G (MTRR) XP_011512346.1:n.-25-3430C>G
XR_427664.1:n.916G>C (FASTKD3)
XM_024446064.1:c.-25-3430C>G (MTRR) XP_024301832.1:n.-25-3430C>G
XR_001742253.1:n.827G>C (FASTKD3)
XR_427664.2:n.916G>C (FASTKD3)
NM_024091.4:c.744G>C (FASTKD3) MANE Select NP_076996.2:p.Leu248Phe
NR_036553.2:n.54-1357G>C (FASTKD3)
NR_073608.2:n.54-1357G>C (FASTKD3)