Canonical Allele Identifier: CA4205905

Gene: GARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30616027G>A , CM000669.2:g.30616027G>A	GRCh38
NC_000007.13:g.30655643G>A , CM000669.1:g.30655643G>A	GRCh37
NC_000007.12:g.30622168G>A	NCBI36
NG_007942.1:g.26463G>A , LRG_243:g.26463G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1163G>A MANE Select	ENSP00000373918.3:p.Arg388Gln
ENST00000444666.6:c.1163G>A	ENSP00000415447.2:p.Arg388Gln
ENST00000470392.2:n.1253G>A
ENST00000478124.6:n.1226G>A
ENST00000485784.2:n.1242G>A
ENST00000674616.1:c.*877G>A	ENSP00000502408.1:n.*877G>A
ENST00000674643.1:c.*263G>A	ENSP00000501636.1:n.*263G>A
ENST00000674734.1:n.1659G>A
ENST00000674737.1:c.*501G>A	ENSP00000502464.1:n.*501G>A
ENST00000674807.1:c.1163G>A	ENSP00000502814.1:p.Arg388Gln
ENST00000674815.1:c.794G>A	ENSP00000502799.1:p.Arg265Gln
ENST00000674851.1:c.794G>A	ENSP00000502451.1:p.Arg265Gln
ENST00000674969.1:n.3036G>A
ENST00000675051.1:c.962G>A	ENSP00000502296.1:p.Arg321Gln
ENST00000675529.1:c.*1033G>A	ENSP00000501655.1:n.*1033G>A
ENST00000675587.1:n.1179G>A
ENST00000675651.1:c.1163G>A	ENSP00000502513.1:p.Arg388Gln
ENST00000675693.1:c.995G>A	ENSP00000502174.1:p.Arg332Gln
ENST00000675810.1:c.1061G>A	ENSP00000502743.1:p.Arg354Gln
ENST00000675859.1:c.1163G>A	ENSP00000502033.1:p.Arg388Gln
ENST00000675863.1:n.1171G>A
ENST00000675886.1:n.7203G>A
ENST00000676088.1:c.*1105G>A	ENSP00000501884.1:n.*1105G>A
ENST00000676140.1:c.*108G>A	ENSP00000502571.1:n.*108G>A
ENST00000676164.1:c.*614G>A	ENSP00000501986.1:n.*614G>A
ENST00000676210.1:c.*452G>A	ENSP00000502373.1:n.*452G>A
ENST00000676259.1:c.*595G>A	ENSP00000501980.1:n.*595G>A
ENST00000676403.1:c.1163G>A	ENSP00000502681.1:p.Arg388Gln
ENST00000389266.7:c.1163G>A	ENSP00000373918.3:p.Arg388Gln
ENST00000478124.5:n.1201G>A
ENST00000484093.1:n.162G>A
NM_001316772.1:c.1001G>A	NP_001303701.1:p.Arg334Gln
NM_002047.2:c.1163G>A , LRG_243t1:c.1163G>A	NP_002038.2:p.Arg388Gln
NM_002047.3:c.1163G>A	NP_002038.2:p.Arg388Gln
XM_006715686.1:c.794G>A	XP_006715749.1:p.Arg265Gln
XM_006715686.2:c.794G>A	XP_006715749.1:p.Arg265Gln
NM_002047.4:c.1163G>A MANE Select	NP_002038.2:p.Arg388Gln