Canonical Allele Identifier: CA1697769529
Gene: GARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30621420G= , CM000669.2:g.30621420G= GRCh38
NC_000007.13:g.30661036G= , CM000669.1:g.30661036G= GRCh37
NC_000007.12:g.30627561G= NCBI36
NG_007942.1:g.31856G= , LRG_243:g.31856G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000389266.8:c.1387G= MANE Select ENSP00000373918.3:p.Asp463=
ENST00000444666.6:c.1387G= ENSP00000415447.2:p.Asp463=
ENST00000470392.2:n.1477G=
ENST00000478124.6:n.1450G=
ENST00000485784.2:n.1466G=
ENST00000674616.1:c.*1101G= ENSP00000502408.1:n.*1101G=
ENST00000674643.1:c.*487G= ENSP00000501636.1:n.*487G=
ENST00000674734.1:n.1883G=
ENST00000674737.1:c.*725G= ENSP00000502464.1:n.*725G=
ENST00000674807.1:c.1387G= ENSP00000502814.1:p.Asp463=
ENST00000674815.1:c.1018G= ENSP00000502799.1:p.Asp340=
ENST00000674851.1:c.1018G= ENSP00000502451.1:p.Asp340=
ENST00000674969.1:n.3260G=
ENST00000675051.1:c.1186G= ENSP00000502296.1:p.Asp396=
ENST00000675529.1:c.*1257G= ENSP00000501655.1:n.*1257G=
ENST00000675587.1:n.1403G=
ENST00000675651.1:c.1387G= ENSP00000502513.1:p.Asp463=
ENST00000675693.1:c.1219G= ENSP00000502174.1:p.Asp407=
ENST00000675810.1:c.1285G= ENSP00000502743.1:p.Asp429=
ENST00000675859.1:c.1387G= ENSP00000502033.1:p.Asp463=
ENST00000675863.1:n.1395G=
ENST00000675886.1:n.7427G=
ENST00000676088.1:c.*1329G= ENSP00000501884.1:n.*1329G=
ENST00000676140.1:c.*332G= ENSP00000502571.1:n.*332G=
ENST00000676164.1:c.*838G= ENSP00000501986.1:n.*838G=
ENST00000676210.1:c.*676G= ENSP00000502373.1:n.*676G=
ENST00000676259.1:c.*819G= ENSP00000501980.1:n.*819G=
ENST00000676403.1:c.1387G= ENSP00000502681.1:p.Asp463=
ENST00000389266.7:c.1387G= ENSP00000373918.3:p.Asp463=
ENST00000478124.5:n.1425G=
ENST00000484093.1:n.386G=
NM_001316772.1:c.1225G= NP_001303701.1:p.Asp409=
NM_002047.2:c.1387G= , LRG_243t1:c.1387G= NP_002038.2:p.Asp463=
NM_002047.3:c.1387G= NP_002038.2:p.Asp463=
XM_006715686.1:c.1018G= XP_006715749.1:p.Asp340=
XM_006715686.2:c.1018G= XP_006715749.1:p.Asp340=
NM_002047.4:c.1387G= MANE Select NP_002038.2:p.Asp463=