Canonical Allele Identifier: CA837505874

Gene: GARS1

Linked Data

• dbSNP Id: rs1225820728
• gnomAD v3: 7-30612039-A-G
• gnomAD v4: 7-30612039-A-G
• MyVariant Identifiers: chr7:g.30651655A>G (hg19) ; chr7:g.30612039A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612039A>G , CM000669.2:g.30612039A>G	GRCh38
NC_000007.13:g.30651655A>G , CM000669.1:g.30651655A>G	GRCh37
NC_000007.12:g.30618180A>G	NCBI36
NG_007942.1:g.22475A>G , LRG_243:g.22475A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000389266.8:c.882-57A>G MANE Select	ENSP00000373918.3:n.882-57A>G
ENST00000444666.6:c.882-57A>G	ENSP00000415447.2:n.882-57A>G
ENST00000470392.2:n.972-57A>G
ENST00000478124.6:n.945-57A>G
ENST00000485784.2:n.961-57A>G
ENST00000674616.1:c.*596-57A>G	ENSP00000502408.1:n.*596-57A>G
ENST00000674643.1:c.882-57A>G	ENSP00000501636.1:n.882-57A>G
ENST00000674734.1:n.1378-57A>G
ENST00000674737.1:c.*220-57A>G	ENSP00000502464.1:n.*220-57A>G
ENST00000674807.1:c.882-57A>G	ENSP00000502814.1:n.882-57A>G
ENST00000674815.1:c.513-57A>G	ENSP00000502799.1:n.513-57A>G
ENST00000674851.1:c.513-57A>G	ENSP00000502451.1:n.513-57A>G
ENST00000674969.1:n.2755-57A>G
ENST00000675051.1:c.681-57A>G	ENSP00000502296.1:n.681-57A>G
ENST00000675529.1:c.*752-57A>G	ENSP00000501655.1:n.*752-57A>G
ENST00000675587.1:n.898-57A>G
ENST00000675651.1:c.882-57A>G	ENSP00000502513.1:n.882-57A>G
ENST00000675693.1:c.714-57A>G	ENSP00000502174.1:n.714-57A>G
ENST00000675810.1:c.780-57A>G	ENSP00000502743.1:n.780-57A>G
ENST00000675859.1:c.882-57A>G	ENSP00000502033.1:n.882-57A>G
ENST00000675863.1:n.890-57A>G
ENST00000675886.1:n.6922-57A>G
ENST00000676088.1:c.*824-57A>G	ENSP00000501884.1:n.*824-57A>G
ENST00000676140.1:c.882-57A>G	ENSP00000502571.1:n.882-57A>G
ENST00000676164.1:c.*333-57A>G	ENSP00000501986.1:n.*333-57A>G
ENST00000676210.1:c.*171-57A>G	ENSP00000502373.1:n.*171-57A>G
ENST00000676259.1:c.*314-57A>G	ENSP00000501980.1:n.*314-57A>G
ENST00000676403.1:c.882-57A>G	ENSP00000502681.1:n.882-57A>G
ENST00000389266.7:c.882-57A>G	ENSP00000373918.3:n.882-57A>G
ENST00000478124.5:n.920-57A>G
NM_001316772.1:c.720-57A>G	NP_001303701.1:n.720-57A>G
NM_002047.2:c.882-57A>G , LRG_243t1:c.882-57A>G	NP_002038.2:n.882-57A>G
NM_002047.3:c.882-57A>G	NP_002038.2:n.882-57A>G
XM_006715686.1:c.513-57A>G	XP_006715749.1:n.513-57A>G
XM_006715686.2:c.513-57A>G	XP_006715749.1:n.513-57A>G
NM_002047.4:c.882-57A>G MANE Select	NP_002038.2:n.882-57A>G