Canonical Allele Identifier: CA16618452

Gene: GARS1

Linked Data

• ClinVar Variation Id: 422928
• ClinVar RCV Id: RCV000482856
• dbSNP Id: rs1054637945
• gnomAD v3: 7-30594884-G-A
• gnomAD v4: 7-30594884-G-A
• MyVariant Identifiers: chr7:g.30634500G>A (hg19) ; chr7:g.30594884G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30594884G>A , CM000669.2:g.30594884G>A	GRCh38
NC_000007.13:g.30634500G>A , CM000669.1:g.30634500G>A	GRCh37
NC_000007.12:g.30601025G>A	NCBI36
NG_007942.1:g.5320G>A , LRG_243:g.5320G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000389266.8:c.-38G>A MANE Select	ENSP00000373918.3:n.-38G>A
ENST00000454308.6:c.-38G>A	ENSP00000392677.2:n.-38G>A
ENST00000470392.2:n.53G>A
ENST00000478124.6:n.26G>A
ENST00000485784.2:n.42G>A
ENST00000674616.1:c.-38G>A	ENSP00000502408.1:n.-38G>A
ENST00000674643.1:c.-38G>A	ENSP00000501636.1:n.-38G>A
ENST00000674737.1:c.-38G>A	ENSP00000502464.1:n.-38G>A
ENST00000674807.1:c.-38G>A	ENSP00000502814.1:n.-38G>A
ENST00000674815.1:c.-216G>A	ENSP00000502799.1:n.-216G>A
ENST00000674969.1:n.3G>A
ENST00000675051.1:c.22-3912G>A	ENSP00000502296.1:n.22-3912G>A
ENST00000675529.1:c.-38G>A	ENSP00000501655.1:n.-38G>A
ENST00000675651.1:c.-38G>A	ENSP00000502513.1:n.-38G>A
ENST00000675693.1:c.-38G>A	ENSP00000502174.1:n.-38G>A
ENST00000675810.1:c.-38G>A	ENSP00000502743.1:n.-38G>A
ENST00000675859.1:c.-38G>A	ENSP00000502033.1:n.-38G>A
ENST00000676088.1:c.-38G>A	ENSP00000501884.1:n.-38G>A
ENST00000676140.1:c.-38G>A	ENSP00000502571.1:n.-38G>A
ENST00000676210.1:c.-38G>A	ENSP00000502373.1:n.-38G>A
ENST00000676259.1:c.-38G>A	ENSP00000501980.1:n.-38G>A
ENST00000676403.1:c.-38G>A	ENSP00000502681.1:n.-38G>A
ENST00000389266.7:c.-38G>A	ENSP00000373918.3:n.-38G>A
ENST00000454308.5:c.-38G>A	ENSP00000392677.1:n.-38G>A
ENST00000478124.5:n.1G>A
ENST00000627489.1:c.-38G>A	ENSP00000485931.1:n.-38G>A
NM_001316772.1:c.-200G>A	NP_001303701.1:n.-200G>A
NM_002047.2:c.-38G>A , LRG_243t1:c.-38G>A	NP_002038.2:n.-38G>A
XM_006715686.2:c.-517G>A	XP_006715749.1:n.-517G>A
NM_002047.4:c.-38G>A MANE Select	NP_002038.2:n.-38G>A