Canonical Allele Identifier: CA4205913
Community Standard Title: NM_002047.4(GARS1):c.1188T>C (p.Val396=)
Gene: GARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30616052T>C , CM000669.2:g.30616052T>C GRCh38
NC_000007.13:g.30655668T>C , CM000669.1:g.30655668T>C GRCh37
NC_000007.12:g.30622193T>C NCBI36
NG_007942.1:g.26488T>C , LRG_243:g.26488T>C

Transcript Alleles

HGVS Amino-acid Change
NM_002047.4:c.1188T>C MANE Select NP_002038.2:p.Val396=
ENST00000389266.8:c.1188T>C MANE Select ENSP00000373918.3:p.Val396=
NM_001316772.1:c.1026T>C NP_001303701.1:p.Val342=
NM_002047.2:c.1188T>C , LRG_243t1:c.1188T>C NP_002038.2:p.Val396=
NM_002047.3:c.1188T>C NP_002038.2:p.Val396=
ENST00000389266.7:c.1188T>C ENSP00000373918.3:p.Val396=
ENST00000444666.6:c.1188T>C ENSP00000415447.2:p.Val396=
ENST00000470392.2:n.1278T>C
ENST00000478124.5:n.1226T>C
ENST00000478124.6:n.1251T>C
ENST00000484093.1:n.187T>C
ENST00000485784.2:n.1267T>C
ENST00000674616.1:c.*902T>C ENSP00000502408.1:n.*902T>C
ENST00000674643.1:c.*288T>C ENSP00000501636.1:n.*288T>C
ENST00000674734.1:n.1684T>C
ENST00000674737.1:c.*526T>C ENSP00000502464.1:n.*526T>C
ENST00000674807.1:c.1188T>C ENSP00000502814.1:p.Val396=
ENST00000674815.1:c.819T>C ENSP00000502799.1:p.Val273=
ENST00000674851.1:c.819T>C ENSP00000502451.1:p.Val273=
ENST00000674969.1:n.3061T>C
ENST00000675051.1:c.987T>C ENSP00000502296.1:p.Val329=
ENST00000675529.1:c.*1058T>C ENSP00000501655.1:n.*1058T>C
ENST00000675587.1:n.1204T>C
ENST00000675651.1:c.1188T>C ENSP00000502513.1:p.Val396=
ENST00000675693.1:c.1020T>C ENSP00000502174.1:p.Val340=
ENST00000675810.1:c.1086T>C ENSP00000502743.1:p.Val362=
ENST00000675859.1:c.1188T>C ENSP00000502033.1:p.Val396=
ENST00000675863.1:n.1196T>C
ENST00000675886.1:n.7228T>C
ENST00000676088.1:c.*1130T>C ENSP00000501884.1:n.*1130T>C
ENST00000676140.1:c.*133T>C ENSP00000502571.1:n.*133T>C
ENST00000676164.1:c.*639T>C ENSP00000501986.1:n.*639T>C
ENST00000676210.1:c.*477T>C ENSP00000502373.1:n.*477T>C
ENST00000676259.1:c.*620T>C ENSP00000501980.1:n.*620T>C
ENST00000676403.1:c.1188T>C ENSP00000502681.1:p.Val396=
XM_006715686.1:c.819T>C XP_006715749.1:p.Val273=
XM_006715686.2:c.819T>C XP_006715749.1:p.Val273=