Canonical Allele Identifier: CA2682249768

Gene: GARS1

Linked Data

• gnomAD v4: 7-30612361-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612361G>A , CM000669.2:g.30612361G>A	GRCh38
NC_000007.13:g.30651977G>A , CM000669.1:g.30651977G>A	GRCh37
NC_000007.12:g.30618502G>A	NCBI36
NG_007942.1:g.22797G>A , LRG_243:g.22797G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1031+116G>A MANE Select	ENSP00000373918.3:n.1031+116G>A
ENST00000444666.6:c.1031+116G>A	ENSP00000415447.2:n.1031+116G>A
ENST00000470392.2:n.1121+116G>A
ENST00000478124.6:n.1094+116G>A
ENST00000485784.2:n.1110+116G>A
ENST00000674616.1:c.*745+116G>A	ENSP00000502408.1:n.*745+116G>A
ENST00000674643.1:c.1031+116G>A	ENSP00000501636.1:n.1031+116G>A
ENST00000674734.1:n.1527+116G>A
ENST00000674737.1:c.*369+116G>A	ENSP00000502464.1:n.*369+116G>A
ENST00000674807.1:c.1031+116G>A	ENSP00000502814.1:n.1031+116G>A
ENST00000674815.1:c.662+116G>A	ENSP00000502799.1:n.662+116G>A
ENST00000674851.1:c.662+116G>A	ENSP00000502451.1:n.662+116G>A
ENST00000674969.1:n.2904+116G>A
ENST00000675051.1:c.830+116G>A	ENSP00000502296.1:n.830+116G>A
ENST00000675529.1:c.*901+116G>A	ENSP00000501655.1:n.*901+116G>A
ENST00000675587.1:n.1047+116G>A
ENST00000675651.1:c.1031+116G>A	ENSP00000502513.1:n.1031+116G>A
ENST00000675693.1:c.863+116G>A	ENSP00000502174.1:n.863+116G>A
ENST00000675810.1:c.929+116G>A	ENSP00000502743.1:n.929+116G>A
ENST00000675859.1:c.1031+116G>A	ENSP00000502033.1:n.1031+116G>A
ENST00000675863.1:n.1039+116G>A
ENST00000675886.1:n.7071+116G>A
ENST00000676088.1:c.*973+116G>A	ENSP00000501884.1:n.*973+116G>A
ENST00000676140.1:c.1031+116G>A	ENSP00000502571.1:n.1031+116G>A
ENST00000676164.1:c.*482+116G>A	ENSP00000501986.1:n.*482+116G>A
ENST00000676210.1:c.*320+116G>A	ENSP00000502373.1:n.*320+116G>A
ENST00000676259.1:c.*463+116G>A	ENSP00000501980.1:n.*463+116G>A
ENST00000676403.1:c.1031+116G>A	ENSP00000502681.1:n.1031+116G>A
ENST00000389266.7:c.1031+116G>A	ENSP00000373918.3:n.1031+116G>A
ENST00000478124.5:n.1069+116G>A
NM_001316772.1:c.869+116G>A	NP_001303701.1:n.869+116G>A
NM_002047.2:c.1031+116G>A , LRG_243t1:c.1031+116G>A	NP_002038.2:n.1031+116G>A
NM_002047.3:c.1031+116G>A	NP_002038.2:n.1031+116G>A
XM_006715686.1:c.662+116G>A	XP_006715749.1:n.662+116G>A
XM_006715686.2:c.662+116G>A	XP_006715749.1:n.662+116G>A
NM_002047.4:c.1031+116G>A MANE Select	NP_002038.2:n.1031+116G>A