Canonical Allele Identifier: CA3195017
Community Standard Title: NM_024091.4(FASTKD3):c.1580C>T (p.Ser527Phe)
Gene: FASTKD3 HGNC NCBI
MTRR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7862942G>A , CM000667.2:g.7862942G>A GRCh38
NC_000005.9:g.7863055G>A , CM000667.1:g.7863055G>A GRCh37
NC_000005.8:g.7916055G>A NCBI36
NG_033101.1:g.11096C>T

Transcript Alleles

HGVS Amino-acid Change
NM_024091.4:c.1580C>T (FASTKD3) MANE Select NP_076996.2:p.Ser527Phe
ENST00000264669.10:c.1580C>T (FASTKD3) MANE Select ENSP00000264669.5:p.Ser527Phe
NM_024091.3:c.1580C>T (FASTKD3) NP_076996.2:p.Ser527Phe
NR_036553.1:n.201C>T (FASTKD3)
NR_036553.2:n.195C>T (FASTKD3)
NR_073608.1:n.201C>T (FASTKD3)
NR_073608.2:n.195C>T (FASTKD3)
ENST00000264669.9:c.1580C>T (FASTKD3) ENSP00000264669.5:p.Ser527Phe
ENST00000282110.8:n.174C>T (FASTKD3)
ENST00000502509.5:n.498+885G>A (MTRR)
ENST00000507036.1:c.1580C>T (FASTKD3) ENSP00000421798.1:p.Ser527Phe
ENST00000511261.5:c.*843C>T (FASTKD3) ENSP00000424568.1:n.*843C>T
ENST00000513577.1:n.355C>T (FASTKD3)
ENST00000513658.5:n.190C>T (FASTKD3)
XM_006714498.1:c.1580C>T (FASTKD3) XP_006714561.1:p.Ser527Phe
XM_011514044.1:c.-26+885G>A (MTRR) XP_011512346.1:n.-26+885G>A
XM_024446064.1:c.-26+885G>A (MTRR) XP_024301832.1:n.-26+885G>A
XR_001742253.1:n.1663C>T (FASTKD3)
XR_427664.1:n.1752C>T (FASTKD3)
XR_427664.2:n.1752C>T (FASTKD3)