Canonical Allele Identifier: CA573453918

Gene: GARS1

Linked Data

• ClinVar Variation Id: 2731258
• ClinVar RCV Id: RCV003581338
• dbSNP Id: rs1224733756
• gnomAD v2: 7-30651696-T-G
• gnomAD v4: 7-30612080-T-G
• MyVariant Identifiers: chr7:g.30651696T>G (hg19) ; chr7:g.30612080T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612080T>G , CM000669.2:g.30612080T>G	GRCh38
NC_000007.13:g.30651696T>G , CM000669.1:g.30651696T>G	GRCh37
NC_000007.12:g.30618221T>G	NCBI36
NG_007942.1:g.22516T>G , LRG_243:g.22516T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.882-16T>G MANE Select	ENSP00000373918.3:n.882-16T>G
ENST00000444666.6:c.882-16T>G	ENSP00000415447.2:n.882-16T>G
ENST00000470392.2:n.972-16T>G
ENST00000478124.6:n.945-16T>G
ENST00000485784.2:n.961-16T>G
ENST00000674616.1:c.*596-16T>G	ENSP00000502408.1:n.*596-16T>G
ENST00000674643.1:c.882-16T>G	ENSP00000501636.1:n.882-16T>G
ENST00000674734.1:n.1378-16T>G
ENST00000674737.1:c.*220-16T>G	ENSP00000502464.1:n.*220-16T>G
ENST00000674807.1:c.882-16T>G	ENSP00000502814.1:n.882-16T>G
ENST00000674815.1:c.513-16T>G	ENSP00000502799.1:n.513-16T>G
ENST00000674851.1:c.513-16T>G	ENSP00000502451.1:n.513-16T>G
ENST00000674969.1:n.2755-16T>G
ENST00000675051.1:c.681-16T>G	ENSP00000502296.1:n.681-16T>G
ENST00000675529.1:c.*752-16T>G	ENSP00000501655.1:n.*752-16T>G
ENST00000675587.1:n.898-16T>G
ENST00000675651.1:c.882-16T>G	ENSP00000502513.1:n.882-16T>G
ENST00000675693.1:c.714-16T>G	ENSP00000502174.1:n.714-16T>G
ENST00000675810.1:c.780-16T>G	ENSP00000502743.1:n.780-16T>G
ENST00000675859.1:c.882-16T>G	ENSP00000502033.1:n.882-16T>G
ENST00000675863.1:n.890-16T>G
ENST00000675886.1:n.6922-16T>G
ENST00000676088.1:c.*824-16T>G	ENSP00000501884.1:n.*824-16T>G
ENST00000676140.1:c.882-16T>G	ENSP00000502571.1:n.882-16T>G
ENST00000676164.1:c.*333-16T>G	ENSP00000501986.1:n.*333-16T>G
ENST00000676210.1:c.*171-16T>G	ENSP00000502373.1:n.*171-16T>G
ENST00000676259.1:c.*314-16T>G	ENSP00000501980.1:n.*314-16T>G
ENST00000676403.1:c.882-16T>G	ENSP00000502681.1:n.882-16T>G
ENST00000389266.7:c.882-16T>G	ENSP00000373918.3:n.882-16T>G
ENST00000478124.5:n.920-16T>G
NM_001316772.1:c.720-16T>G	NP_001303701.1:n.720-16T>G
NM_002047.2:c.882-16T>G , LRG_243t1:c.882-16T>G	NP_002038.2:n.882-16T>G
NM_002047.3:c.882-16T>G	NP_002038.2:n.882-16T>G
XM_006715686.1:c.513-16T>G	XP_006715749.1:n.513-16T>G
XM_006715686.2:c.513-16T>G	XP_006715749.1:n.513-16T>G
NM_002047.4:c.882-16T>G MANE Select	NP_002038.2:n.882-16T>G