Canonical Allele Identifier: CA156054862

Gene: GARS1

Linked Data

• dbSNP Id: rs976496704
• gnomAD v4: 7-30621407-T-G
• COSMIC: COSM4155717
• MyVariant Identifiers: chr7:g.30661023T>G (hg19) ; chr7:g.30621407T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30621407T>G , CM000669.2:g.30621407T>G	GRCh38
NC_000007.13:g.30661023T>G , CM000669.1:g.30661023T>G	GRCh37
NC_000007.12:g.30627548T>G	NCBI36
NG_007942.1:g.31843T>G , LRG_243:g.31843T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1374T>G MANE Select	ENSP00000373918.3:p.Ile458Met
ENST00000444666.6:c.1374T>G	ENSP00000415447.2:p.Ile458Met
ENST00000470392.2:n.1464T>G
ENST00000478124.6:n.1437T>G
ENST00000485784.2:n.1453T>G
ENST00000674616.1:c.*1088T>G	ENSP00000502408.1:n.*1088T>G
ENST00000674643.1:c.*474T>G	ENSP00000501636.1:n.*474T>G
ENST00000674734.1:n.1870T>G
ENST00000674737.1:c.*712T>G	ENSP00000502464.1:n.*712T>G
ENST00000674807.1:c.1374T>G	ENSP00000502814.1:p.Ile458Met
ENST00000674815.1:c.1005T>G	ENSP00000502799.1:p.Ile335Met
ENST00000674851.1:c.1005T>G	ENSP00000502451.1:p.Ile335Met
ENST00000674969.1:n.3247T>G
ENST00000675051.1:c.1173T>G	ENSP00000502296.1:p.Ile391Met
ENST00000675529.1:c.*1244T>G	ENSP00000501655.1:n.*1244T>G
ENST00000675587.1:n.1390T>G
ENST00000675651.1:c.1374T>G	ENSP00000502513.1:p.Ile458Met
ENST00000675693.1:c.1206T>G	ENSP00000502174.1:p.Ile402Met
ENST00000675810.1:c.1272T>G	ENSP00000502743.1:p.Ile424Met
ENST00000675859.1:c.1374T>G	ENSP00000502033.1:p.Ile458Met
ENST00000675863.1:n.1382T>G
ENST00000675886.1:n.7414T>G
ENST00000676088.1:c.*1316T>G	ENSP00000501884.1:n.*1316T>G
ENST00000676140.1:c.*319T>G	ENSP00000502571.1:n.*319T>G
ENST00000676164.1:c.*825T>G	ENSP00000501986.1:n.*825T>G
ENST00000676210.1:c.*663T>G	ENSP00000502373.1:n.*663T>G
ENST00000676259.1:c.*806T>G	ENSP00000501980.1:n.*806T>G
ENST00000676403.1:c.1374T>G	ENSP00000502681.1:p.Ile458Met
ENST00000389266.7:c.1374T>G	ENSP00000373918.3:p.Ile458Met
ENST00000478124.5:n.1412T>G
ENST00000484093.1:n.373T>G
NM_001316772.1:c.1212T>G	NP_001303701.1:p.Ile404Met
NM_002047.2:c.1374T>G , LRG_243t1:c.1374T>G	NP_002038.2:p.Ile458Met
NM_002047.3:c.1374T>G	NP_002038.2:p.Ile458Met
XM_006715686.1:c.1005T>G	XP_006715749.1:p.Ile335Met
XM_006715686.2:c.1005T>G	XP_006715749.1:p.Ile335Met
NM_002047.4:c.1374T>G MANE Select	NP_002038.2:p.Ile458Met