Canonical Allele Identifier: CA16612089

Gene: GARS1

Linked Data

• ClinVar Variation Id: 410310
• ClinVar RCV Id: RCV000472881 ; RCV000764712 ; RCV002248686
• dbSNP Id: rs1060502836
• gnomAD v4: 7-30616050-G-A
• MyVariant Identifiers: chr7:g.30655666G>A (hg19) ; chr7:g.30616050G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30616050G>A , CM000669.2:g.30616050G>A	GRCh38
NC_000007.13:g.30655666G>A , CM000669.1:g.30655666G>A	GRCh37
NC_000007.12:g.30622191G>A	NCBI36
NG_007942.1:g.26486G>A , LRG_243:g.26486G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1186G>A MANE Select	ENSP00000373918.3:p.Val396Ile
ENST00000444666.6:c.1186G>A	ENSP00000415447.2:p.Val396Ile
ENST00000470392.2:n.1276G>A
ENST00000478124.6:n.1249G>A
ENST00000485784.2:n.1265G>A
ENST00000674616.1:c.*900G>A	ENSP00000502408.1:n.*900G>A
ENST00000674643.1:c.*286G>A	ENSP00000501636.1:n.*286G>A
ENST00000674734.1:n.1682G>A
ENST00000674737.1:c.*524G>A	ENSP00000502464.1:n.*524G>A
ENST00000674807.1:c.1186G>A	ENSP00000502814.1:p.Val396Ile
ENST00000674815.1:c.817G>A	ENSP00000502799.1:p.Val273Ile
ENST00000674851.1:c.817G>A	ENSP00000502451.1:p.Val273Ile
ENST00000674969.1:n.3059G>A
ENST00000675051.1:c.985G>A	ENSP00000502296.1:p.Val329Ile
ENST00000675529.1:c.*1056G>A	ENSP00000501655.1:n.*1056G>A
ENST00000675587.1:n.1202G>A
ENST00000675651.1:c.1186G>A	ENSP00000502513.1:p.Val396Ile
ENST00000675693.1:c.1018G>A	ENSP00000502174.1:p.Val340Ile
ENST00000675810.1:c.1084G>A	ENSP00000502743.1:p.Val362Ile
ENST00000675859.1:c.1186G>A	ENSP00000502033.1:p.Val396Ile
ENST00000675863.1:n.1194G>A
ENST00000675886.1:n.7226G>A
ENST00000676088.1:c.*1128G>A	ENSP00000501884.1:n.*1128G>A
ENST00000676140.1:c.*131G>A	ENSP00000502571.1:n.*131G>A
ENST00000676164.1:c.*637G>A	ENSP00000501986.1:n.*637G>A
ENST00000676210.1:c.*475G>A	ENSP00000502373.1:n.*475G>A
ENST00000676259.1:c.*618G>A	ENSP00000501980.1:n.*618G>A
ENST00000676403.1:c.1186G>A	ENSP00000502681.1:p.Val396Ile
ENST00000389266.7:c.1186G>A	ENSP00000373918.3:p.Val396Ile
ENST00000478124.5:n.1224G>A
ENST00000484093.1:n.185G>A
NM_001316772.1:c.1024G>A	NP_001303701.1:p.Val342Ile
NM_002047.2:c.1186G>A , LRG_243t1:c.1186G>A	NP_002038.2:p.Val396Ile
NM_002047.3:c.1186G>A	NP_002038.2:p.Val396Ile
XM_006715686.1:c.817G>A	XP_006715749.1:p.Val273Ile
XM_006715686.2:c.817G>A	XP_006715749.1:p.Val273Ile
NM_002047.4:c.1186G>A MANE Select	NP_002038.2:p.Val396Ile