Canonical Allele Identifier: CA367129433

Gene: GARS1

Linked Data

• gnomAD v4: 7-30626298-A-G
• MyVariant Identifiers: chr7:g.30665914A>G (hg19) ; chr7:g.30626298A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30626298A>G , CM000669.2:g.30626298A>G	GRCh38
NC_000007.13:g.30665914A>G , CM000669.1:g.30665914A>G	GRCh37
NC_000007.12:g.30632439A>G	NCBI36
NG_007942.1:g.36734A>G , LRG_243:g.36734A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1678A>G MANE Select	ENSP00000373918.3:p.Arg560Gly
ENST00000444666.6:c.1678A>G	ENSP00000415447.2:p.Arg560Gly
ENST00000470392.2:n.1768A>G
ENST00000485784.2:n.1757A>G
ENST00000674616.1:c.*1392A>G	ENSP00000502408.1:n.*1392A>G
ENST00000674643.1:c.*778A>G	ENSP00000501636.1:n.*778A>G
ENST00000674737.1:c.*1016A>G	ENSP00000502464.1:n.*1016A>G
ENST00000674807.1:c.1614-2262A>G	ENSP00000502814.1:n.1614-2262A>G
ENST00000674815.1:c.1309A>G	ENSP00000502799.1:p.Arg437Gly
ENST00000674851.1:c.1309A>G	ENSP00000502451.1:p.Arg437Gly
ENST00000674969.1:n.3551A>G
ENST00000675051.1:c.1477A>G	ENSP00000502296.1:p.Arg493Gly
ENST00000675529.1:c.*1548A>G	ENSP00000501655.1:n.*1548A>G
ENST00000675587.1:n.2510A>G
ENST00000675651.1:c.1678A>G	ENSP00000502513.1:p.Arg560Gly
ENST00000675693.1:c.1510A>G	ENSP00000502174.1:p.Arg504Gly
ENST00000675810.1:c.1576A>G	ENSP00000502743.1:p.Arg526Gly
ENST00000675859.1:c.1614-2262A>G	ENSP00000502033.1:n.1614-2262A>G
ENST00000675863.1:n.1686A>G
ENST00000675886.1:n.7718A>G
ENST00000676088.1:c.*1620A>G	ENSP00000501884.1:n.*1620A>G
ENST00000676140.1:c.*623A>G	ENSP00000502571.1:n.*623A>G
ENST00000676164.1:c.*1129A>G	ENSP00000501986.1:n.*1129A>G
ENST00000676210.1:c.*967A>G	ENSP00000502373.1:n.*967A>G
ENST00000676259.1:c.*1110A>G	ENSP00000501980.1:n.*1110A>G
ENST00000676403.1:c.1678A>G	ENSP00000502681.1:p.Arg560Gly
ENST00000389266.7:c.1678A>G	ENSP00000373918.3:p.Arg560Gly
ENST00000444666.5:c.199A>G	ENSP00000415447.1:p.Arg67Gly
ENST00000470392.1:n.400A>G
NM_001316772.1:c.1516A>G	NP_001303701.1:p.Arg506Gly
NM_002047.2:c.1678A>G , LRG_243t1:c.1678A>G	NP_002038.2:p.Arg560Gly
NM_002047.3:c.1678A>G	NP_002038.2:p.Arg560Gly
XM_006715686.1:c.1309A>G	XP_006715749.1:p.Arg437Gly
XM_006715686.2:c.1309A>G	XP_006715749.1:p.Arg437Gly
NM_002047.4:c.1678A>G MANE Select	NP_002038.2:p.Arg560Gly