Canonical Allele Identifier: CA1697807643

Gene: GARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609664T= , CM000669.2:g.30609664T=	GRCh38
NC_000007.13:g.30649280T= , CM000669.1:g.30649280T=	GRCh37
NC_000007.12:g.30615805T=	NCBI36
NG_007942.1:g.20100T= , LRG_243:g.20100T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.815T= MANE Select	ENSP00000373918.3:p.Leu272=
ENST00000444666.6:c.815T=	ENSP00000415447.2:p.Leu272=
ENST00000470392.2:n.905T=
ENST00000478124.6:n.878T=
ENST00000485784.2:n.894T=
ENST00000674616.1:c.*529T=	ENSP00000502408.1:n.*529T=
ENST00000674643.1:c.815T=	ENSP00000501636.1:p.Leu272=
ENST00000674734.1:n.1311T=
ENST00000674737.1:c.*153T=	ENSP00000502464.1:n.*153T=
ENST00000674807.1:c.815T=	ENSP00000502814.1:p.Leu272=
ENST00000674815.1:c.446T=	ENSP00000502799.1:p.Leu149=
ENST00000674851.1:c.446T=	ENSP00000502451.1:p.Leu149=
ENST00000674969.1:n.2688T=
ENST00000675051.1:c.614T=	ENSP00000502296.1:p.Leu205=
ENST00000675529.1:c.*685T=	ENSP00000501655.1:n.*685T=
ENST00000675587.1:n.831T=
ENST00000675651.1:c.815T=	ENSP00000502513.1:p.Leu272=
ENST00000675693.1:c.647T=	ENSP00000502174.1:p.Leu216=
ENST00000675810.1:c.713T=	ENSP00000502743.1:p.Leu238=
ENST00000675859.1:c.815T=	ENSP00000502033.1:p.Leu272=
ENST00000675863.1:n.823T=
ENST00000675886.1:n.6855T=
ENST00000676088.1:c.*757T=	ENSP00000501884.1:n.*757T=
ENST00000676140.1:c.815T=	ENSP00000502571.1:p.Leu272=
ENST00000676164.1:c.*266T=	ENSP00000501986.1:n.*266T=
ENST00000676210.1:c.*104T=	ENSP00000502373.1:n.*104T=
ENST00000676259.1:c.*247T=	ENSP00000501980.1:n.*247T=
ENST00000676403.1:c.815T=	ENSP00000502681.1:p.Leu272=
ENST00000389266.7:c.815T=	ENSP00000373918.3:p.Leu272=
ENST00000478124.5:n.853T=
NM_001316772.1:c.653T=	NP_001303701.1:p.Leu218=
NM_002047.2:c.815T= , LRG_243t1:c.815T=	NP_002038.2:p.Leu272=
NM_002047.3:c.815T=	NP_002038.2:p.Leu272=
XM_006715686.1:c.446T=	XP_006715749.1:p.Leu149=
XM_006715686.2:c.446T=	XP_006715749.1:p.Leu149=
NM_002047.4:c.815T= MANE Select	NP_002038.2:p.Leu272=