Canonical Allele Identifier: CA3623859
Community Standard Title: NM_006567.5(FARS2):c.1057A>C (p.Lys353Gln)
Gene: FARS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.5545332A>C , CM000668.2:g.5545332A>C GRCh38
NC_000006.11:g.5545565A>C , CM000668.1:g.5545565A>C GRCh37
NC_000006.10:g.5490564A>C NCBI36
NG_033003.1:g.288982A>C
NG_033003.2:g.288982A>C

Transcript Alleles

HGVS Amino-acid Change
NM_006567.5:c.1057A>C MANE Select NP_006558.1:p.Lys353Gln
ENST00000274680.9:c.1057A>C MANE Select ENSP00000274680.4:p.Lys353Gln
NM_001318872.1:c.1057A>C NP_001305801.1:p.Lys353Gln
NM_001318872.2:c.1057A>C NP_001305801.1:p.Lys353Gln
NM_001374875.1:c.1057A>C NP_001361804.1:p.Lys353Gln
NM_001374876.1:c.1057A>C NP_001361805.1:p.Lys353Gln
NM_001374877.1:c.1057A>C NP_001361806.1:p.Lys353Gln
NM_001374878.1:c.1057A>C NP_001361807.1:p.Lys353Gln
NM_001374879.1:c.1057A>C NP_001361808.1:p.Lys353Gln
NM_001375257.1:c.1057A>C NP_001362186.1:p.Lys353Gln
NM_001375258.1:c.925A>C NP_001362187.1:p.Lys309Gln
NM_001375259.1:c.361A>C NP_001362188.1:p.Lys121Gln
NM_001375260.1:c.361A>C NP_001362189.1:p.Lys121Gln
NM_006567.3:c.1057A>C NP_006558.1:p.Lys353Gln
NM_006567.4:c.1057A>C NP_006558.1:p.Lys353Gln
ENST00000274680.8:c.1057A>C ENSP00000274680.3:p.Lys353Gln
ENST00000324331.10:c.1057A>C ENSP00000316335.5:p.Lys353Gln
ENST00000648580.1:c.1057A>C ENSP00000497889.1:p.Lys353Gln
XM_005248811.1:c.1057A>C XP_005248868.1:p.Lys353Gln
XM_005248812.2:c.1057A>C XP_005248869.1:p.Lys353Gln
XM_005248812.3:c.1057A>C XP_005248869.1:p.Lys353Gln
XM_011514247.1:c.1057A>C XP_011512549.1:p.Lys353Gln
XM_011514247.3:c.1057A>C XP_011512549.1:p.Lys353Gln
XM_011514248.1:c.1057A>C XP_011512550.1:p.Lys353Gln
XM_011514248.3:c.1057A>C XP_011512550.1:p.Lys353Gln
XM_011514249.1:c.1057A>C XP_011512551.1:p.Lys353Gln
XM_011514249.2:c.1057A>C XP_011512551.1:p.Lys353Gln
XM_017010186.1:c.1057A>C XP_016865675.1:p.Lys353Gln
XM_017010187.1:c.1057A>C XP_016865676.1:p.Lys353Gln
XR_926026.1:n.2031A>C
XR_926028.1:n.1520A>C
XR_926028.2:n.1497A>C