Canonical Allele Identifier: CA2739266372

Gene: GARS1

Linked Data

• ClinVar Variation Id: 2847428
• ClinVar RCV Id: RCV003744502

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612255A>T , CM000669.2:g.30612255A>T	GRCh38
NC_000007.13:g.30651871A>T , CM000669.1:g.30651871A>T	GRCh37
NC_000007.12:g.30618396A>T	NCBI36
NG_007942.1:g.22691A>T , LRG_243:g.22691A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1031+10A>T MANE Select	ENSP00000373918.3:n.1031+10A>T
ENST00000444666.6:c.1031+10A>T	ENSP00000415447.2:n.1031+10A>T
ENST00000470392.2:n.1121+10A>T
ENST00000478124.6:n.1094+10A>T
ENST00000485784.2:n.1110+10A>T
ENST00000674616.1:c.*745+10A>T	ENSP00000502408.1:n.*745+10A>T
ENST00000674643.1:c.1031+10A>T	ENSP00000501636.1:n.1031+10A>T
ENST00000674734.1:n.1527+10A>T
ENST00000674737.1:c.*369+10A>T	ENSP00000502464.1:n.*369+10A>T
ENST00000674807.1:c.1031+10A>T	ENSP00000502814.1:n.1031+10A>T
ENST00000674815.1:c.662+10A>T	ENSP00000502799.1:n.662+10A>T
ENST00000674851.1:c.662+10A>T	ENSP00000502451.1:n.662+10A>T
ENST00000674969.1:n.2904+10A>T
ENST00000675051.1:c.830+10A>T	ENSP00000502296.1:n.830+10A>T
ENST00000675529.1:c.*901+10A>T	ENSP00000501655.1:n.*901+10A>T
ENST00000675587.1:n.1047+10A>T
ENST00000675651.1:c.1031+10A>T	ENSP00000502513.1:n.1031+10A>T
ENST00000675693.1:c.863+10A>T	ENSP00000502174.1:n.863+10A>T
ENST00000675810.1:c.929+10A>T	ENSP00000502743.1:n.929+10A>T
ENST00000675859.1:c.1031+10A>T	ENSP00000502033.1:n.1031+10A>T
ENST00000675863.1:n.1039+10A>T
ENST00000675886.1:n.7071+10A>T
ENST00000676088.1:c.*973+10A>T	ENSP00000501884.1:n.*973+10A>T
ENST00000676140.1:c.1031+10A>T	ENSP00000502571.1:n.1031+10A>T
ENST00000676164.1:c.*482+10A>T	ENSP00000501986.1:n.*482+10A>T
ENST00000676210.1:c.*320+10A>T	ENSP00000502373.1:n.*320+10A>T
ENST00000676259.1:c.*463+10A>T	ENSP00000501980.1:n.*463+10A>T
ENST00000676403.1:c.1031+10A>T	ENSP00000502681.1:n.1031+10A>T
ENST00000389266.7:c.1031+10A>T	ENSP00000373918.3:n.1031+10A>T
ENST00000478124.5:n.1069+10A>T
NM_001316772.1:c.869+10A>T	NP_001303701.1:n.869+10A>T
NM_002047.2:c.1031+10A>T , LRG_243t1:c.1031+10A>T	NP_002038.2:n.1031+10A>T
NM_002047.3:c.1031+10A>T	NP_002038.2:n.1031+10A>T
XM_006715686.1:c.662+10A>T	XP_006715749.1:n.662+10A>T
XM_006715686.2:c.662+10A>T	XP_006715749.1:n.662+10A>T
NM_002047.4:c.1031+10A>T MANE Select	NP_002038.2:n.1031+10A>T