Canonical Allele Identifier: CA1697807678

Gene: GARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609691T= , CM000669.2:g.30609691T=	GRCh38
NC_000007.13:g.30649307T= , CM000669.1:g.30649307T=	GRCh37
NC_000007.12:g.30615832T=	NCBI36
NG_007942.1:g.20127T= , LRG_243:g.20127T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.842T= MANE Select	ENSP00000373918.3:p.Met281=
ENST00000444666.6:c.842T=	ENSP00000415447.2:p.Met281=
ENST00000470392.2:n.932T=
ENST00000478124.6:n.905T=
ENST00000485784.2:n.921T=
ENST00000674616.1:c.*556T=	ENSP00000502408.1:n.*556T=
ENST00000674643.1:c.842T=	ENSP00000501636.1:p.Met281=
ENST00000674734.1:n.1338T=
ENST00000674737.1:c.*180T=	ENSP00000502464.1:n.*180T=
ENST00000674807.1:c.842T=	ENSP00000502814.1:p.Met281=
ENST00000674815.1:c.473T=	ENSP00000502799.1:p.Met158=
ENST00000674851.1:c.473T=	ENSP00000502451.1:p.Met158=
ENST00000674969.1:n.2715T=
ENST00000675051.1:c.641T=	ENSP00000502296.1:p.Met214=
ENST00000675529.1:c.*712T=	ENSP00000501655.1:n.*712T=
ENST00000675587.1:n.858T=
ENST00000675651.1:c.842T=	ENSP00000502513.1:p.Met281=
ENST00000675693.1:c.674T=	ENSP00000502174.1:p.Met225=
ENST00000675810.1:c.740T=	ENSP00000502743.1:p.Met247=
ENST00000675859.1:c.842T=	ENSP00000502033.1:p.Met281=
ENST00000675863.1:n.850T=
ENST00000675886.1:n.6882T=
ENST00000676088.1:c.*784T=	ENSP00000501884.1:n.*784T=
ENST00000676140.1:c.842T=	ENSP00000502571.1:p.Met281=
ENST00000676164.1:c.*293T=	ENSP00000501986.1:n.*293T=
ENST00000676210.1:c.*131T=	ENSP00000502373.1:n.*131T=
ENST00000676259.1:c.*274T=	ENSP00000501980.1:n.*274T=
ENST00000676403.1:c.842T=	ENSP00000502681.1:p.Met281=
ENST00000389266.7:c.842T=	ENSP00000373918.3:p.Met281=
ENST00000478124.5:n.880T=
NM_001316772.1:c.680T=	NP_001303701.1:p.Met227=
NM_002047.2:c.842T= , LRG_243t1:c.842T=	NP_002038.2:p.Met281=
NM_002047.3:c.842T=	NP_002038.2:p.Met281=
XM_006715686.1:c.473T=	XP_006715749.1:p.Met158=
XM_006715686.2:c.473T=	XP_006715749.1:p.Met158=
NM_002047.4:c.842T= MANE Select	NP_002038.2:p.Met281=