Canonical Allele Identifier: CA367125620

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30651861G>C (hg19) ; chr7:g.30612245G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612245G>C , CM000669.2:g.30612245G>C	GRCh38
NC_000007.13:g.30651861G>C , CM000669.1:g.30651861G>C	GRCh37
NC_000007.12:g.30618386G>C	NCBI36
NG_007942.1:g.22681G>C , LRG_243:g.22681G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1031G>C MANE Select	ENSP00000373918.3:p.Arg344Thr
ENST00000444666.6:c.1031G>C	ENSP00000415447.2:p.Arg344Thr
ENST00000470392.2:n.1121G>C
ENST00000478124.6:n.1094G>C
ENST00000485784.2:n.1110G>C
ENST00000674616.1:c.*745G>C	ENSP00000502408.1:n.*745G>C
ENST00000674643.1:c.1031G>C	ENSP00000501636.1:p.Ser344Thr
ENST00000674734.1:n.1527G>C
ENST00000674737.1:c.*369G>C	ENSP00000502464.1:n.*369G>C
ENST00000674807.1:c.1031G>C	ENSP00000502814.1:p.Arg344Thr
ENST00000674815.1:c.662G>C	ENSP00000502799.1:p.Arg221Thr
ENST00000674851.1:c.662G>C	ENSP00000502451.1:p.Arg221Thr
ENST00000674969.1:n.2904G>C
ENST00000675051.1:c.830G>C	ENSP00000502296.1:p.Arg277Thr
ENST00000675529.1:c.*901G>C	ENSP00000501655.1:n.*901G>C
ENST00000675587.1:n.1047G>C
ENST00000675651.1:c.1031G>C	ENSP00000502513.1:p.Arg344Thr
ENST00000675693.1:c.863G>C	ENSP00000502174.1:p.Arg288Thr
ENST00000675810.1:c.929G>C	ENSP00000502743.1:p.Arg310Thr
ENST00000675859.1:c.1031G>C	ENSP00000502033.1:p.Arg344Thr
ENST00000675863.1:n.1039G>C
ENST00000675886.1:n.7071G>C
ENST00000676088.1:c.*973G>C	ENSP00000501884.1:n.*973G>C
ENST00000676140.1:c.1031G>C	ENSP00000502571.1:p.Arg344Thr
ENST00000676164.1:c.*482G>C	ENSP00000501986.1:n.*482G>C
ENST00000676210.1:c.*320G>C	ENSP00000502373.1:n.*320G>C
ENST00000676259.1:c.*463G>C	ENSP00000501980.1:n.*463G>C
ENST00000676403.1:c.1031G>C	ENSP00000502681.1:p.Arg344Thr
ENST00000389266.7:c.1031G>C	ENSP00000373918.3:p.Arg344Thr
ENST00000478124.5:n.1069G>C
NM_001316772.1:c.869G>C	NP_001303701.1:p.Arg290Thr
NM_002047.2:c.1031G>C , LRG_243t1:c.1031G>C	NP_002038.2:p.Arg344Thr
NM_002047.3:c.1031G>C	NP_002038.2:p.Arg344Thr
XM_006715686.1:c.662G>C	XP_006715749.1:p.Arg221Thr
XM_006715686.2:c.662G>C	XP_006715749.1:p.Arg221Thr
NM_002047.4:c.1031G>C MANE Select	NP_002038.2:p.Arg344Thr