Canonical Allele Identifier: CA367125103

Gene: GARS1

Linked Data

• gnomAD v4: 7-30612178-G-A
• MyVariant Identifiers: chr7:g.30651794G>A (hg19) ; chr7:g.30612178G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612178G>A , CM000669.2:g.30612178G>A	GRCh38
NC_000007.13:g.30651794G>A , CM000669.1:g.30651794G>A	GRCh37
NC_000007.12:g.30618319G>A	NCBI36
NG_007942.1:g.22614G>A , LRG_243:g.22614G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.964G>A MANE Select	ENSP00000373918.3:p.Ala322Thr
ENST00000444666.6:c.964G>A	ENSP00000415447.2:p.Ala322Thr
ENST00000470392.2:n.1054G>A
ENST00000478124.6:n.1027G>A
ENST00000485784.2:n.1043G>A
ENST00000674616.1:c.*678G>A	ENSP00000502408.1:n.*678G>A
ENST00000674643.1:c.964G>A	ENSP00000501636.1:p.Ala322Thr
ENST00000674734.1:n.1460G>A
ENST00000674737.1:c.*302G>A	ENSP00000502464.1:n.*302G>A
ENST00000674807.1:c.964G>A	ENSP00000502814.1:p.Ala322Thr
ENST00000674815.1:c.595G>A	ENSP00000502799.1:p.Ala199Thr
ENST00000674851.1:c.595G>A	ENSP00000502451.1:p.Ala199Thr
ENST00000674969.1:n.2837G>A
ENST00000675051.1:c.763G>A	ENSP00000502296.1:p.Ala255Thr
ENST00000675529.1:c.*834G>A	ENSP00000501655.1:n.*834G>A
ENST00000675587.1:n.980G>A
ENST00000675651.1:c.964G>A	ENSP00000502513.1:p.Ala322Thr
ENST00000675693.1:c.796G>A	ENSP00000502174.1:p.Ala266Thr
ENST00000675810.1:c.862G>A	ENSP00000502743.1:p.Ala288Thr
ENST00000675859.1:c.964G>A	ENSP00000502033.1:p.Ala322Thr
ENST00000675863.1:n.972G>A
ENST00000675886.1:n.7004G>A
ENST00000676088.1:c.*906G>A	ENSP00000501884.1:n.*906G>A
ENST00000676140.1:c.964G>A	ENSP00000502571.1:p.Ala322Thr
ENST00000676164.1:c.*415G>A	ENSP00000501986.1:n.*415G>A
ENST00000676210.1:c.*253G>A	ENSP00000502373.1:n.*253G>A
ENST00000676259.1:c.*396G>A	ENSP00000501980.1:n.*396G>A
ENST00000676403.1:c.964G>A	ENSP00000502681.1:p.Ala322Thr
ENST00000389266.7:c.964G>A	ENSP00000373918.3:p.Ala322Thr
ENST00000478124.5:n.1002G>A
NM_001316772.1:c.802G>A	NP_001303701.1:p.Ala268Thr
NM_002047.2:c.964G>A , LRG_243t1:c.964G>A	NP_002038.2:p.Ala322Thr
NM_002047.3:c.964G>A	NP_002038.2:p.Ala322Thr
XM_006715686.1:c.595G>A	XP_006715749.1:p.Ala199Thr
XM_006715686.2:c.595G>A	XP_006715749.1:p.Ala199Thr
NM_002047.4:c.964G>A MANE Select	NP_002038.2:p.Ala322Thr