Canonical Allele Identifier: CA4205825

Gene: GARS1

Linked Data

• ClinVar Variation Id: 476761
• ClinVar RCV Id: RCV000552423 ; RCV004024376
• dbSNP Id: rs780902152
• ExAC: 7:30649247 A / G
• gnomAD v2: 7-30649247-A-G
• gnomAD v3: 7-30609631-A-G
• gnomAD v4: 7-30609631-A-G
• MyVariant Identifiers: chr7:g.30649247A>G (hg19) ; chr7:g.30609631A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609631A>G , CM000669.2:g.30609631A>G	GRCh38
NC_000007.13:g.30649247A>G , CM000669.1:g.30649247A>G	GRCh37
NC_000007.12:g.30615772A>G	NCBI36
NG_007942.1:g.20067A>G , LRG_243:g.20067A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.782A>G MANE Select	ENSP00000373918.3:p.Tyr261Cys
ENST00000444666.6:c.782A>G	ENSP00000415447.2:p.Tyr261Cys
ENST00000470392.2:n.872A>G
ENST00000478124.6:n.845A>G
ENST00000485784.2:n.861A>G
ENST00000674616.1:c.*496A>G	ENSP00000502408.1:n.*496A>G
ENST00000674643.1:c.782A>G	ENSP00000501636.1:p.Tyr261Cys
ENST00000674734.1:n.1278A>G
ENST00000674737.1:c.*120A>G	ENSP00000502464.1:n.*120A>G
ENST00000674807.1:c.782A>G	ENSP00000502814.1:p.Tyr261Cys
ENST00000674815.1:c.413A>G	ENSP00000502799.1:p.Tyr138Cys
ENST00000674851.1:c.413A>G	ENSP00000502451.1:p.Tyr138Cys
ENST00000674969.1:n.2655A>G
ENST00000675051.1:c.581A>G	ENSP00000502296.1:p.Tyr194Cys
ENST00000675529.1:c.*652A>G	ENSP00000501655.1:n.*652A>G
ENST00000675587.1:n.798A>G
ENST00000675651.1:c.782A>G	ENSP00000502513.1:p.Tyr261Cys
ENST00000675693.1:c.614A>G	ENSP00000502174.1:p.Tyr205Cys
ENST00000675810.1:c.680A>G	ENSP00000502743.1:p.Tyr227Cys
ENST00000675859.1:c.782A>G	ENSP00000502033.1:p.Tyr261Cys
ENST00000675863.1:n.790A>G
ENST00000675886.1:n.6822A>G
ENST00000676088.1:c.*724A>G	ENSP00000501884.1:n.*724A>G
ENST00000676140.1:c.782A>G	ENSP00000502571.1:p.Tyr261Cys
ENST00000676164.1:c.*233A>G	ENSP00000501986.1:n.*233A>G
ENST00000676210.1:c.*71A>G	ENSP00000502373.1:n.*71A>G
ENST00000676259.1:c.*214A>G	ENSP00000501980.1:n.*214A>G
ENST00000676403.1:c.782A>G	ENSP00000502681.1:p.Tyr261Cys
ENST00000389266.7:c.782A>G	ENSP00000373918.3:p.Tyr261Cys
ENST00000478124.5:n.820A>G
NM_001316772.1:c.620A>G	NP_001303701.1:p.Tyr207Cys
NM_002047.2:c.782A>G , LRG_243t1:c.782A>G	NP_002038.2:p.Tyr261Cys
NM_002047.3:c.782A>G	NP_002038.2:p.Tyr261Cys
XM_006715686.1:c.413A>G	XP_006715749.1:p.Tyr138Cys
XM_006715686.2:c.413A>G	XP_006715749.1:p.Tyr138Cys
NM_002047.4:c.782A>G MANE Select	NP_002038.2:p.Tyr261Cys