Canonical Allele Identifier: CA4205833

Gene: GARS1

Linked Data

• ClinVar Variation Id: 258539
• ClinVar RCV Id: RCV000252217 ; RCV000871962 ; RCV001172975
• dbSNP Id: rs777128525
• ExAC: 7:30649281 A / G
• gnomAD v2: 7-30649281-A-G
• gnomAD v3: 7-30609665-A-G
• gnomAD v4: 7-30609665-A-G
• COSMIC: COSM452958
• MyVariant Identifiers: chr7:g.30649281A>G (hg19) ; chr7:g.30609665A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609665A>G , CM000669.2:g.30609665A>G	GRCh38
NC_000007.13:g.30649281A>G , CM000669.1:g.30649281A>G	GRCh37
NC_000007.12:g.30615806A>G	NCBI36
NG_007942.1:g.20101A>G , LRG_243:g.20101A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.816A>G MANE Select	ENSP00000373918.3:p.Leu272=
ENST00000444666.6:c.816A>G	ENSP00000415447.2:p.Leu272=
ENST00000470392.2:n.906A>G
ENST00000478124.6:n.879A>G
ENST00000485784.2:n.895A>G
ENST00000674616.1:c.*530A>G	ENSP00000502408.1:n.*530A>G
ENST00000674643.1:c.816A>G	ENSP00000501636.1:p.Leu272=
ENST00000674734.1:n.1312A>G
ENST00000674737.1:c.*154A>G	ENSP00000502464.1:n.*154A>G
ENST00000674807.1:c.816A>G	ENSP00000502814.1:p.Leu272=
ENST00000674815.1:c.447A>G	ENSP00000502799.1:p.Leu149=
ENST00000674851.1:c.447A>G	ENSP00000502451.1:p.Leu149=
ENST00000674969.1:n.2689A>G
ENST00000675051.1:c.615A>G	ENSP00000502296.1:p.Leu205=
ENST00000675529.1:c.*686A>G	ENSP00000501655.1:n.*686A>G
ENST00000675587.1:n.832A>G
ENST00000675651.1:c.816A>G	ENSP00000502513.1:p.Leu272=
ENST00000675693.1:c.648A>G	ENSP00000502174.1:p.Leu216=
ENST00000675810.1:c.714A>G	ENSP00000502743.1:p.Leu238=
ENST00000675859.1:c.816A>G	ENSP00000502033.1:p.Leu272=
ENST00000675863.1:n.824A>G
ENST00000675886.1:n.6856A>G
ENST00000676088.1:c.*758A>G	ENSP00000501884.1:n.*758A>G
ENST00000676140.1:c.816A>G	ENSP00000502571.1:p.Leu272=
ENST00000676164.1:c.*267A>G	ENSP00000501986.1:n.*267A>G
ENST00000676210.1:c.*105A>G	ENSP00000502373.1:n.*105A>G
ENST00000676259.1:c.*248A>G	ENSP00000501980.1:n.*248A>G
ENST00000676403.1:c.816A>G	ENSP00000502681.1:p.Leu272=
ENST00000389266.7:c.816A>G	ENSP00000373918.3:p.Leu272=
ENST00000478124.5:n.854A>G
NM_001316772.1:c.654A>G	NP_001303701.1:p.Leu218=
NM_002047.2:c.816A>G , LRG_243t1:c.816A>G	NP_002038.2:p.Leu272=
NM_002047.3:c.816A>G	NP_002038.2:p.Leu272=
XM_006715686.1:c.447A>G	XP_006715749.1:p.Leu149=
XM_006715686.2:c.447A>G	XP_006715749.1:p.Leu149=
NM_002047.4:c.816A>G MANE Select	NP_002038.2:p.Leu272=