Canonical Allele Identifier: CA367124615

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30649315A>C (hg19) ; chr7:g.30609699A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609699A>C , CM000669.2:g.30609699A>C	GRCh38
NC_000007.13:g.30649315A>C , CM000669.1:g.30649315A>C	GRCh37
NC_000007.12:g.30615840A>C	NCBI36
NG_007942.1:g.20135A>C , LRG_243:g.20135A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.850A>C MANE Select	ENSP00000373918.3:p.Thr284Pro
ENST00000444666.6:c.850A>C	ENSP00000415447.2:p.Thr284Pro
ENST00000470392.2:n.940A>C
ENST00000478124.6:n.913A>C
ENST00000485784.2:n.929A>C
ENST00000674616.1:c.*564A>C	ENSP00000502408.1:n.*564A>C
ENST00000674643.1:c.850A>C	ENSP00000501636.1:p.Thr284Pro
ENST00000674734.1:n.1346A>C
ENST00000674737.1:c.*188A>C	ENSP00000502464.1:n.*188A>C
ENST00000674807.1:c.850A>C	ENSP00000502814.1:p.Thr284Pro
ENST00000674815.1:c.481A>C	ENSP00000502799.1:p.Thr161Pro
ENST00000674851.1:c.481A>C	ENSP00000502451.1:p.Thr161Pro
ENST00000674969.1:n.2723A>C
ENST00000675051.1:c.649A>C	ENSP00000502296.1:p.Thr217Pro
ENST00000675529.1:c.*720A>C	ENSP00000501655.1:n.*720A>C
ENST00000675587.1:n.866A>C
ENST00000675651.1:c.850A>C	ENSP00000502513.1:p.Thr284Pro
ENST00000675693.1:c.682A>C	ENSP00000502174.1:p.Thr228Pro
ENST00000675810.1:c.748A>C	ENSP00000502743.1:p.Thr250Pro
ENST00000675859.1:c.850A>C	ENSP00000502033.1:p.Thr284Pro
ENST00000675863.1:n.858A>C
ENST00000675886.1:n.6890A>C
ENST00000676088.1:c.*792A>C	ENSP00000501884.1:n.*792A>C
ENST00000676140.1:c.850A>C	ENSP00000502571.1:p.Thr284Pro
ENST00000676164.1:c.*301A>C	ENSP00000501986.1:n.*301A>C
ENST00000676210.1:c.*139A>C	ENSP00000502373.1:n.*139A>C
ENST00000676259.1:c.*282A>C	ENSP00000501980.1:n.*282A>C
ENST00000676403.1:c.850A>C	ENSP00000502681.1:p.Thr284Pro
ENST00000389266.7:c.850A>C	ENSP00000373918.3:p.Thr284Pro
ENST00000478124.5:n.888A>C
NM_001316772.1:c.688A>C	NP_001303701.1:p.Thr230Pro
NM_002047.2:c.850A>C , LRG_243t1:c.850A>C	NP_002038.2:p.Thr284Pro
NM_002047.3:c.850A>C	NP_002038.2:p.Thr284Pro
XM_006715686.1:c.481A>C	XP_006715749.1:p.Thr161Pro
XM_006715686.2:c.481A>C	XP_006715749.1:p.Thr161Pro
NM_002047.4:c.850A>C MANE Select	NP_002038.2:p.Thr284Pro