Canonical Allele Identifier: CA4205944
Community Standard Title: NM_002047.4(GARS1):c.1268C>T (p.Ser423Phe)
Gene: GARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30617187C>T , CM000669.2:g.30617187C>T GRCh38
NC_000007.13:g.30656803C>T , CM000669.1:g.30656803C>T GRCh37
NC_000007.12:g.30623328C>T NCBI36
NG_007942.1:g.27623C>T , LRG_243:g.27623C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002047.4:c.1268C>T MANE Select NP_002038.2:p.Ser423Phe
ENST00000389266.8:c.1268C>T MANE Select ENSP00000373918.3:p.Ser423Phe
NM_001316772.1:c.1106C>T NP_001303701.1:p.Ser369Phe
NM_002047.2:c.1268C>T , LRG_243t1:c.1268C>T NP_002038.2:p.Ser423Phe
NM_002047.3:c.1268C>T NP_002038.2:p.Ser423Phe
ENST00000389266.7:c.1268C>T ENSP00000373918.3:p.Ser423Phe
ENST00000444666.6:c.1268C>T ENSP00000415447.2:p.Ser423Phe
ENST00000470392.2:n.1358C>T
ENST00000478124.5:n.1306C>T
ENST00000478124.6:n.1331C>T
ENST00000484093.1:n.267C>T
ENST00000485784.2:n.1347C>T
ENST00000674616.1:c.*982C>T ENSP00000502408.1:n.*982C>T
ENST00000674643.1:c.*368C>T ENSP00000501636.1:n.*368C>T
ENST00000674734.1:n.1764C>T
ENST00000674737.1:c.*606C>T ENSP00000502464.1:n.*606C>T
ENST00000674807.1:c.1268C>T ENSP00000502814.1:p.Ser423Phe
ENST00000674815.1:c.899C>T ENSP00000502799.1:p.Ser300Phe
ENST00000674851.1:c.899C>T ENSP00000502451.1:p.Ser300Phe
ENST00000674969.1:n.3141C>T
ENST00000675051.1:c.1067C>T ENSP00000502296.1:p.Ser356Phe
ENST00000675529.1:c.*1138C>T ENSP00000501655.1:n.*1138C>T
ENST00000675587.1:n.1284C>T
ENST00000675651.1:c.1268C>T ENSP00000502513.1:p.Ser423Phe
ENST00000675693.1:c.1100C>T ENSP00000502174.1:p.Ser367Phe
ENST00000675810.1:c.1166C>T ENSP00000502743.1:p.Ser389Phe
ENST00000675859.1:c.1268C>T ENSP00000502033.1:p.Ser423Phe
ENST00000675863.1:n.1276C>T
ENST00000675886.1:n.7308C>T
ENST00000676088.1:c.*1210C>T ENSP00000501884.1:n.*1210C>T
ENST00000676140.1:c.*213C>T ENSP00000502571.1:n.*213C>T
ENST00000676164.1:c.*719C>T ENSP00000501986.1:n.*719C>T
ENST00000676210.1:c.*557C>T ENSP00000502373.1:n.*557C>T
ENST00000676259.1:c.*700C>T ENSP00000501980.1:n.*700C>T
ENST00000676403.1:c.1268C>T ENSP00000502681.1:p.Ser423Phe
XM_006715686.1:c.899C>T XP_006715749.1:p.Ser300Phe
XM_006715686.2:c.899C>T XP_006715749.1:p.Ser300Phe