Canonical Allele Identifier: CA367125516

Gene: GARS1

Linked Data

• ClinVar Variation Id: 543227
• ClinVar RCV Id: RCV000653928 ; RCV001260980 ; RCV001334991
• dbSNP Id: rs1554338262
• MyVariant Identifiers: chr7:g.30651831T>A (hg19) ; chr7:g.30612215T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612215T>A , CM000669.2:g.30612215T>A	GRCh38
NC_000007.13:g.30651831T>A , CM000669.1:g.30651831T>A	GRCh37
NC_000007.12:g.30618356T>A	NCBI36
NG_007942.1:g.22651T>A , LRG_243:g.22651T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1001T>A MANE Select	ENSP00000373918.3:p.Ile334Asn
ENST00000444666.6:c.1001T>A	ENSP00000415447.2:p.Ile334Asn
ENST00000470392.2:n.1091T>A
ENST00000478124.6:n.1064T>A
ENST00000485784.2:n.1080T>A
ENST00000674616.1:c.*715T>A	ENSP00000502408.1:n.*715T>A
ENST00000674643.1:c.1001T>A	ENSP00000501636.1:p.Ile334Asn
ENST00000674734.1:n.1497T>A
ENST00000674737.1:c.*339T>A	ENSP00000502464.1:n.*339T>A
ENST00000674807.1:c.1001T>A	ENSP00000502814.1:p.Ile334Asn
ENST00000674815.1:c.632T>A	ENSP00000502799.1:p.Ile211Asn
ENST00000674851.1:c.632T>A	ENSP00000502451.1:p.Ile211Asn
ENST00000674969.1:n.2874T>A
ENST00000675051.1:c.800T>A	ENSP00000502296.1:p.Ile267Asn
ENST00000675529.1:c.*871T>A	ENSP00000501655.1:n.*871T>A
ENST00000675587.1:n.1017T>A
ENST00000675651.1:c.1001T>A	ENSP00000502513.1:p.Ile334Asn
ENST00000675693.1:c.833T>A	ENSP00000502174.1:p.Ile278Asn
ENST00000675810.1:c.899T>A	ENSP00000502743.1:p.Ile300Asn
ENST00000675859.1:c.1001T>A	ENSP00000502033.1:p.Ile334Asn
ENST00000675863.1:n.1009T>A
ENST00000675886.1:n.7041T>A
ENST00000676088.1:c.*943T>A	ENSP00000501884.1:n.*943T>A
ENST00000676140.1:c.1001T>A	ENSP00000502571.1:p.Ile334Asn
ENST00000676164.1:c.*452T>A	ENSP00000501986.1:n.*452T>A
ENST00000676210.1:c.*290T>A	ENSP00000502373.1:n.*290T>A
ENST00000676259.1:c.*433T>A	ENSP00000501980.1:n.*433T>A
ENST00000676403.1:c.1001T>A	ENSP00000502681.1:p.Ile334Asn
ENST00000389266.7:c.1001T>A	ENSP00000373918.3:p.Ile334Asn
ENST00000478124.5:n.1039T>A
NM_001316772.1:c.839T>A	NP_001303701.1:p.Ile280Asn
NM_002047.2:c.1001T>A , LRG_243t1:c.1001T>A	NP_002038.2:p.Ile334Asn
NM_002047.3:c.1001T>A	NP_002038.2:p.Ile334Asn
XM_006715686.1:c.632T>A	XP_006715749.1:p.Ile211Asn
XM_006715686.2:c.632T>A	XP_006715749.1:p.Ile211Asn
NM_002047.4:c.1001T>A MANE Select	NP_002038.2:p.Ile334Asn