Canonical Allele Identifier: CA454246860

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30651719A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612103A>C , CM000669.2:g.30612103A>C	GRCh38
NC_000007.13:g.30651719A>C , CM000669.1:g.30651719A>C	GRCh37
NC_000007.12:g.30618244A>C	NCBI36
NG_007942.1:g.22539A>C , LRG_243:g.22539A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.889A>C MANE Select	ENSP00000373918.3:p.Arg297=
ENST00000444666.6:c.889A>C	ENSP00000415447.2:p.Arg297=
ENST00000470392.2:n.979A>C
ENST00000478124.6:n.952A>C
ENST00000485784.2:n.968A>C
ENST00000674616.1:c.*603A>C	ENSP00000502408.1:n.*603A>C
ENST00000674643.1:c.889A>C	ENSP00000501636.1:p.Arg297=
ENST00000674734.1:n.1385A>C
ENST00000674737.1:c.*227A>C	ENSP00000502464.1:n.*227A>C
ENST00000674807.1:c.889A>C	ENSP00000502814.1:p.Arg297=
ENST00000674815.1:c.520A>C	ENSP00000502799.1:p.Arg174=
ENST00000674851.1:c.520A>C	ENSP00000502451.1:p.Arg174=
ENST00000674969.1:n.2762A>C
ENST00000675051.1:c.688A>C	ENSP00000502296.1:p.Arg230=
ENST00000675529.1:c.*759A>C	ENSP00000501655.1:n.*759A>C
ENST00000675587.1:n.905A>C
ENST00000675651.1:c.889A>C	ENSP00000502513.1:p.Arg297=
ENST00000675693.1:c.721A>C	ENSP00000502174.1:p.Arg241=
ENST00000675810.1:c.787A>C	ENSP00000502743.1:p.Arg263=
ENST00000675859.1:c.889A>C	ENSP00000502033.1:p.Arg297=
ENST00000675863.1:n.897A>C
ENST00000675886.1:n.6929A>C
ENST00000676088.1:c.*831A>C	ENSP00000501884.1:n.*831A>C
ENST00000676140.1:c.889A>C	ENSP00000502571.1:p.Arg297=
ENST00000676164.1:c.*340A>C	ENSP00000501986.1:n.*340A>C
ENST00000676210.1:c.*178A>C	ENSP00000502373.1:n.*178A>C
ENST00000676259.1:c.*321A>C	ENSP00000501980.1:n.*321A>C
ENST00000676403.1:c.889A>C	ENSP00000502681.1:p.Arg297=
ENST00000389266.7:c.889A>C	ENSP00000373918.3:p.Arg297=
ENST00000478124.5:n.927A>C
NM_001316772.1:c.727A>C	NP_001303701.1:p.Arg243=
NM_002047.2:c.889A>C , LRG_243t1:c.889A>C	NP_002038.2:p.Arg297=
NM_002047.3:c.889A>C	NP_002038.2:p.Arg297=
XM_006715686.1:c.520A>C	XP_006715749.1:p.Arg174=
XM_006715686.2:c.520A>C	XP_006715749.1:p.Arg174=
NM_002047.4:c.889A>C MANE Select	NP_002038.2:p.Arg297=