Canonical Allele Identifier: CA4205820

Gene: GARS1

Linked Data

• ClinVar Variation Id: 360006
• ClinVar RCV Id: RCV000312217 ; RCV000369316 ; RCV001310959 ; RCV000654009 ; RCV001095275 ; RCV004022049
• dbSNP Id: rs201447520
• ExAC: 7:30649230 G / A
• gnomAD v2: 7-30649230-G-A
• gnomAD v3: 7-30609614-G-A
• gnomAD v4: 7-30609614-G-A
• MyVariant Identifiers: chr7:g.30649230G>A (hg19) ; chr7:g.30609614G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609614G>A , CM000669.2:g.30609614G>A	GRCh38
NC_000007.13:g.30649230G>A , CM000669.1:g.30649230G>A	GRCh37
NC_000007.12:g.30615755G>A	NCBI36
NG_007942.1:g.20050G>A , LRG_243:g.20050G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.765G>A MANE Select	ENSP00000373918.3:p.Ala255=
ENST00000444666.6:c.765G>A	ENSP00000415447.2:p.Ala255=
ENST00000470392.2:n.855G>A
ENST00000478124.6:n.828G>A
ENST00000485784.2:n.844G>A
ENST00000674616.1:c.*479G>A	ENSP00000502408.1:n.*479G>A
ENST00000674643.1:c.765G>A	ENSP00000501636.1:p.Ala255=
ENST00000674734.1:n.1261G>A
ENST00000674737.1:c.*103G>A	ENSP00000502464.1:n.*103G>A
ENST00000674807.1:c.765G>A	ENSP00000502814.1:p.Ala255=
ENST00000674815.1:c.396G>A	ENSP00000502799.1:p.Ala132=
ENST00000674851.1:c.396G>A	ENSP00000502451.1:p.Ala132=
ENST00000674969.1:n.2638G>A
ENST00000675051.1:c.564G>A	ENSP00000502296.1:p.Ala188=
ENST00000675529.1:c.*635G>A	ENSP00000501655.1:n.*635G>A
ENST00000675587.1:n.781G>A
ENST00000675651.1:c.765G>A	ENSP00000502513.1:p.Ala255=
ENST00000675693.1:c.597G>A	ENSP00000502174.1:p.Ala199=
ENST00000675810.1:c.663G>A	ENSP00000502743.1:p.Ala221=
ENST00000675859.1:c.765G>A	ENSP00000502033.1:p.Ala255=
ENST00000675863.1:n.773G>A
ENST00000675886.1:n.6805G>A
ENST00000676088.1:c.*707G>A	ENSP00000501884.1:n.*707G>A
ENST00000676140.1:c.765G>A	ENSP00000502571.1:p.Ala255=
ENST00000676164.1:c.*216G>A	ENSP00000501986.1:n.*216G>A
ENST00000676210.1:c.*54G>A	ENSP00000502373.1:n.*54G>A
ENST00000676259.1:c.*197G>A	ENSP00000501980.1:n.*197G>A
ENST00000676403.1:c.765G>A	ENSP00000502681.1:p.Ala255=
ENST00000389266.7:c.765G>A	ENSP00000373918.3:p.Ala255=
ENST00000478124.5:n.803G>A
NM_001316772.1:c.603G>A	NP_001303701.1:p.Ala201=
NM_002047.2:c.765G>A , LRG_243t1:c.765G>A	NP_002038.2:p.Ala255=
NM_002047.3:c.765G>A	NP_002038.2:p.Ala255=
XM_006715686.1:c.396G>A	XP_006715749.1:p.Ala132=
XM_006715686.2:c.396G>A	XP_006715749.1:p.Ala132=
NM_002047.4:c.765G>A MANE Select	NP_002038.2:p.Ala255=