Canonical Allele Identifier: CA4206179

Gene: GARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30633830G>A , CM000669.2:g.30633830G>A	GRCh38
NC_000007.13:g.30673446G>A , CM000669.1:g.30673446G>A	GRCh37
NC_000007.12:g.30639971G>A	NCBI36
NG_007942.1:g.44266G>A , LRG_243:g.44266G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.2190G>A MANE Select	ENSP00000373918.3:p.Glu730=
ENST00000444666.6:c.*611G>A	ENSP00000415447.2:n.*611G>A
ENST00000465748.2:n.1671G>A
ENST00000470392.2:n.5763G>A
ENST00000485784.2:n.5047G>A
ENST00000496643.2:n.3990G>A
ENST00000674616.1:c.*1904G>A	ENSP00000502408.1:n.*1904G>A
ENST00000674643.1:c.*1995G>A	ENSP00000501636.1:n.*1995G>A
ENST00000674737.1:c.*1528G>A	ENSP00000502464.1:n.*1528G>A
ENST00000674807.1:c.*463G>A	ENSP00000502814.1:n.*463G>A
ENST00000674815.1:c.1821G>A	ENSP00000502799.1:p.Glu607=
ENST00000674851.1:c.1821G>A	ENSP00000502451.1:p.Glu607=
ENST00000674969.1:n.4063G>A
ENST00000675051.1:c.1989G>A	ENSP00000502296.1:p.Glu663=
ENST00000675529.1:c.*2060G>A	ENSP00000501655.1:n.*2060G>A
ENST00000675587.1:n.3022G>A
ENST00000675651.1:c.2208G>A	ENSP00000502513.1:p.Glu736=
ENST00000675693.1:c.2022G>A	ENSP00000502174.1:p.Glu674=
ENST00000675810.1:c.2088G>A	ENSP00000502743.1:p.Glu696=
ENST00000675859.1:c.*369G>A	ENSP00000502033.1:n.*369G>A
ENST00000675863.1:n.2903G>A
ENST00000675886.1:n.8230G>A
ENST00000676088.1:c.*2132G>A	ENSP00000501884.1:n.*2132G>A
ENST00000676140.1:c.*1135G>A	ENSP00000502571.1:n.*1135G>A
ENST00000676164.1:c.*1641G>A	ENSP00000501986.1:n.*1641G>A
ENST00000676210.1:c.*1479G>A	ENSP00000502373.1:n.*1479G>A
ENST00000676259.1:c.*1622G>A	ENSP00000501980.1:n.*1622G>A
ENST00000676403.1:c.*275G>A	ENSP00000502681.1:n.*275G>A
ENST00000389266.7:c.2190G>A	ENSP00000373918.3:p.Glu730=
ENST00000485784.1:n.680G>A
ENST00000496643.1:n.569G>A
NM_001316772.1:c.2028G>A	NP_001303701.1:p.Glu676=
NM_002047.2:c.2190G>A , LRG_243t1:c.2190G>A	NP_002038.2:p.Glu730=
NM_002047.3:c.2190G>A	NP_002038.2:p.Glu730=
XM_006715686.1:c.1821G>A	XP_006715749.1:p.Glu607=
XM_006715686.2:c.1821G>A	XP_006715749.1:p.Glu607=
NM_002047.4:c.2190G>A MANE Select	NP_002038.2:p.Glu730=