Canonical Allele Identifier: CA359152132

Gene: FASTKD3 MTRR

Genomic Alleles

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

Transcript Alleles

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