Canonical Allele Identifier: CA4206173

Gene: GARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30633799A>C , CM000669.2:g.30633799A>C	GRCh38
NC_000007.13:g.30673415A>C , CM000669.1:g.30673415A>C	GRCh37
NC_000007.12:g.30639940A>C	NCBI36
NG_007942.1:g.44235A>C , LRG_243:g.44235A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002047.4:c.2159A>C MANE Select	NP_002038.2:p.Glu720Ala
ENST00000389266.8:c.2159A>C MANE Select	ENSP00000373918.3:p.Glu720Ala
NM_001316772.1:c.1997A>C	NP_001303701.1:p.Glu666Ala
NM_002047.2:c.2159A>C , LRG_243t1:c.2159A>C	NP_002038.2:p.Glu720Ala
NM_002047.3:c.2159A>C	NP_002038.2:p.Glu720Ala
ENST00000389266.7:c.2159A>C	ENSP00000373918.3:p.Glu720Ala
ENST00000444666.6:c.*580A>C	ENSP00000415447.2:n.*580A>C
ENST00000465748.2:n.1640A>C
ENST00000470392.2:n.5732A>C
ENST00000485784.1:n.649A>C
ENST00000485784.2:n.5016A>C
ENST00000496643.1:n.538A>C
ENST00000496643.2:n.3959A>C
ENST00000674616.1:c.*1873A>C	ENSP00000502408.1:n.*1873A>C
ENST00000674643.1:c.*1964A>C	ENSP00000501636.1:n.*1964A>C
ENST00000674737.1:c.*1497A>C	ENSP00000502464.1:n.*1497A>C
ENST00000674807.1:c.*432A>C	ENSP00000502814.1:n.*432A>C
ENST00000674815.1:c.1790A>C	ENSP00000502799.1:p.Glu597Ala
ENST00000674851.1:c.1790A>C	ENSP00000502451.1:p.Glu597Ala
ENST00000674969.1:n.4032A>C
ENST00000675051.1:c.1958A>C	ENSP00000502296.1:p.Glu653Ala
ENST00000675529.1:c.*2029A>C	ENSP00000501655.1:n.*2029A>C
ENST00000675587.1:n.2991A>C
ENST00000675651.1:c.2177A>C	ENSP00000502513.1:p.Glu726Ala
ENST00000675693.1:c.1991A>C	ENSP00000502174.1:p.Glu664Ala
ENST00000675810.1:c.2057A>C	ENSP00000502743.1:p.Glu686Ala
ENST00000675859.1:c.*338A>C	ENSP00000502033.1:n.*338A>C
ENST00000675863.1:n.2872A>C
ENST00000675886.1:n.8199A>C
ENST00000676088.1:c.*2101A>C	ENSP00000501884.1:n.*2101A>C
ENST00000676140.1:c.*1104A>C	ENSP00000502571.1:n.*1104A>C
ENST00000676164.1:c.*1610A>C	ENSP00000501986.1:n.*1610A>C
ENST00000676210.1:c.*1448A>C	ENSP00000502373.1:n.*1448A>C
ENST00000676259.1:c.*1591A>C	ENSP00000501980.1:n.*1591A>C
ENST00000676403.1:c.*244A>C	ENSP00000502681.1:n.*244A>C
XM_006715686.1:c.1790A>C	XP_006715749.1:p.Glu597Ala
XM_006715686.2:c.1790A>C	XP_006715749.1:p.Glu597Ala