Canonical Allele Identifier: CA367124804

Gene: GARS1

Linked Data

• ClinVar Variation Id: 1056698
• ClinVar RCV Id: RCV001365565
• dbSNP Id: rs1782769087
• gnomAD v4: 7-30612097-T-A
• MyVariant Identifiers: chr7:g.30651713T>A (hg19) ; chr7:g.30612097T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612097T>A , CM000669.2:g.30612097T>A	GRCh38
NC_000007.13:g.30651713T>A , CM000669.1:g.30651713T>A	GRCh37
NC_000007.12:g.30618238T>A	NCBI36
NG_007942.1:g.22533T>A , LRG_243:g.22533T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000389266.8:c.883T>A MANE Select	ENSP00000373918.3:p.Tyr295Asn
ENST00000444666.6:c.883T>A	ENSP00000415447.2:p.Tyr295Asn
ENST00000470392.2:n.973T>A
ENST00000478124.6:n.946T>A
ENST00000485784.2:n.962T>A
ENST00000674616.1:c.*597T>A	ENSP00000502408.1:n.*597T>A
ENST00000674643.1:c.883T>A	ENSP00000501636.1:p.Tyr295Asn
ENST00000674734.1:n.1379T>A
ENST00000674737.1:c.*221T>A	ENSP00000502464.1:n.*221T>A
ENST00000674807.1:c.883T>A	ENSP00000502814.1:p.Tyr295Asn
ENST00000674815.1:c.514T>A	ENSP00000502799.1:p.Tyr172Asn
ENST00000674851.1:c.514T>A	ENSP00000502451.1:p.Tyr172Asn
ENST00000674969.1:n.2756T>A
ENST00000675051.1:c.682T>A	ENSP00000502296.1:p.Tyr228Asn
ENST00000675529.1:c.*753T>A	ENSP00000501655.1:n.*753T>A
ENST00000675587.1:n.899T>A
ENST00000675651.1:c.883T>A	ENSP00000502513.1:p.Tyr295Asn
ENST00000675693.1:c.715T>A	ENSP00000502174.1:p.Tyr239Asn
ENST00000675810.1:c.781T>A	ENSP00000502743.1:p.Tyr261Asn
ENST00000675859.1:c.883T>A	ENSP00000502033.1:p.Tyr295Asn
ENST00000675863.1:n.891T>A
ENST00000675886.1:n.6923T>A
ENST00000676088.1:c.*825T>A	ENSP00000501884.1:n.*825T>A
ENST00000676140.1:c.883T>A	ENSP00000502571.1:p.Tyr295Asn
ENST00000676164.1:c.*334T>A	ENSP00000501986.1:n.*334T>A
ENST00000676210.1:c.*172T>A	ENSP00000502373.1:n.*172T>A
ENST00000676259.1:c.*315T>A	ENSP00000501980.1:n.*315T>A
ENST00000676403.1:c.883T>A	ENSP00000502681.1:p.Tyr295Asn
ENST00000389266.7:c.883T>A	ENSP00000373918.3:p.Tyr295Asn
ENST00000478124.5:n.921T>A
NM_001316772.1:c.721T>A	NP_001303701.1:p.Tyr241Asn
NM_002047.2:c.883T>A , LRG_243t1:c.883T>A	NP_002038.2:p.Tyr295Asn
NM_002047.3:c.883T>A	NP_002038.2:p.Tyr295Asn
XM_006715686.1:c.514T>A	XP_006715749.1:p.Tyr172Asn
XM_006715686.2:c.514T>A	XP_006715749.1:p.Tyr172Asn
NM_002047.4:c.883T>A MANE Select	NP_002038.2:p.Tyr295Asn