Canonical Allele Identifier: CA279628

Gene: GARS1

Linked Data

• ClinVar Variation Id: 217861
• ClinVar RCV Id: RCV000201927
• dbSNP Id: rs863223328
• gnomAD v2: 7-30634632-T-C
• gnomAD v4: 7-30595016-T-C
• MyVariant Identifiers: chr7:g.30634632T>C (hg19) ; chr7:g.30595016T>C (hg38)
• PubMed: PMID:4306395 ; PMID:26517670

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30595016T>C , CM000669.2:g.30595016T>C	GRCh38
NC_000007.13:g.30634632T>C , CM000669.1:g.30634632T>C	GRCh37
NC_000007.12:g.30601157T>C	NCBI36
NG_007942.1:g.5452T>C , LRG_243:g.5452T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.95T>C MANE Select	ENSP00000373918.3:p.Leu32Pro
ENST00000444666.6:c.95T>C	ENSP00000415447.2:p.Leu32Pro
ENST00000454308.6:c.95T>C	ENSP00000392677.2:p.Leu32Pro
ENST00000470392.2:n.185T>C
ENST00000478124.6:n.158T>C
ENST00000485784.2:n.174T>C
ENST00000674616.1:c.95T>C	ENSP00000502408.1:p.Leu32Pro
ENST00000674643.1:c.95T>C	ENSP00000501636.1:p.Leu32Pro
ENST00000674737.1:c.95T>C	ENSP00000502464.1:p.Leu32Pro
ENST00000674807.1:c.95T>C	ENSP00000502814.1:p.Leu32Pro
ENST00000674815.1:c.-148+64T>C	ENSP00000502799.1:n.-148+64T>C
ENST00000674851.1:c.-184+64T>C	ENSP00000502451.1:n.-184+64T>C
ENST00000674969.1:n.135T>C
ENST00000675051.1:c.22-3780T>C	ENSP00000502296.1:n.22-3780T>C
ENST00000675529.1:c.95T>C	ENSP00000501655.1:p.Leu32Pro
ENST00000675587.1:n.111T>C
ENST00000675651.1:c.95T>C	ENSP00000502513.1:p.Leu32Pro
ENST00000675693.1:c.18+77T>C	ENSP00000502174.1:n.18+77T>C
ENST00000675810.1:c.95T>C	ENSP00000502743.1:p.Leu32Pro
ENST00000675859.1:c.95T>C	ENSP00000502033.1:p.Leu32Pro
ENST00000675863.1:n.103T>C
ENST00000675886.1:n.123T>C
ENST00000676088.1:c.95T>C	ENSP00000501884.1:p.Leu32Pro
ENST00000676140.1:c.95T>C	ENSP00000502571.1:p.Leu32Pro
ENST00000676164.1:c.95T>C	ENSP00000501986.1:p.Leu32Pro
ENST00000676210.1:c.95T>C	ENSP00000502373.1:p.Leu32Pro
ENST00000676259.1:c.95T>C	ENSP00000501980.1:p.Leu32Pro
ENST00000676403.1:c.95T>C	ENSP00000502681.1:p.Leu32Pro
ENST00000389266.7:c.95T>C	ENSP00000373918.3:p.Leu32Pro
ENST00000454308.5:c.95T>C	ENSP00000392677.1:p.Leu32Pro
ENST00000478124.5:n.133T>C
ENST00000627489.1:c.95T>C	ENSP00000485931.1:p.Leu32Pro
NM_001316772.1:c.-68T>C	NP_001303701.1:n.-68T>C
NM_002047.2:c.95T>C , LRG_243t1:c.95T>C	NP_002038.2:p.Leu32Pro
NM_002047.3:c.95T>C	NP_002038.2:p.Leu32Pro
XM_006715686.2:c.-385T>C	XP_006715749.1:n.-385T>C
NM_002047.4:c.95T>C MANE Select	NP_002038.2:p.Leu32Pro