Canonical Allele Identifier: CA350819372
Community Standard Title: NM_005687.5(FARSB):c.226T>C (p.Cys76Arg)
Gene: FARSB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.222642894A>G , CM000664.2:g.222642894A>G GRCh38
NC_000002.11:g.223507613A>G , CM000664.1:g.223507613A>G GRCh37
NC_000002.10:g.223215857A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_005687.5:c.226T>C MANE Select NP_005678.3:p.Cys76Arg
ENST00000281828.8:c.226T>C MANE Select ENSP00000281828.6:p.Cys76Arg
NM_005687.4:c.226T>C NP_005678.3:p.Cys76Arg
NR_130154.1:n.704T>C
NR_130154.2:n.441T>C
ENST00000281828.6:c.226T>C ENSP00000281828.6:p.Cys76Arg
XM_006712169.1:c.-72T>C XP_006712232.1:n.-72T>C
XM_006712169.2:c.-72T>C XP_006712232.1:n.-72T>C
XM_006712170.1:c.-72T>C XP_006712233.1:n.-72T>C
XM_011510466.1:c.-72T>C XP_011508768.1:n.-72T>C
XM_011510466.2:c.-72T>C XP_011508768.1:n.-72T>C
XM_017003110.2:c.-72T>C XP_016858599.1:n.-72T>C
XM_024452492.1:c.-72T>C XP_024308260.1:n.-72T>C