Canonical Allele Identifier: CA4205642

Gene: GARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30598874C>T , CM000669.2:g.30598874C>T	GRCh38
NC_000007.13:g.30638490C>T , CM000669.1:g.30638490C>T	GRCh37
NC_000007.12:g.30605015C>T	NCBI36
NG_007942.1:g.9310C>T , LRG_243:g.9310C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002047.4:c.301C>T MANE Select	NP_002038.2:p.Arg101Cys
ENST00000389266.8:c.301C>T MANE Select	ENSP00000373918.3:p.Arg101Cys
NM_001316772.1:c.139C>T	NP_001303701.1:p.Arg47Cys
NM_002047.2:c.301C>T , LRG_243t1:c.301C>T	NP_002038.2:p.Arg101Cys
NM_002047.3:c.301C>T	NP_002038.2:p.Arg101Cys
ENST00000389266.7:c.301C>T	ENSP00000373918.3:p.Arg101Cys
ENST00000444666.6:c.301C>T	ENSP00000415447.2:p.Arg101Cys
ENST00000454308.5:c.*171C>T	ENSP00000392677.1:n.*171C>T
ENST00000454308.6:c.301C>T	ENSP00000392677.2:p.Arg101Cys
ENST00000470392.2:n.391C>T
ENST00000478124.5:n.339C>T
ENST00000478124.6:n.364C>T
ENST00000485784.2:n.380C>T
ENST00000674616.1:c.301C>T	ENSP00000502408.1:p.Arg101Cys
ENST00000674643.1:c.301C>T	ENSP00000501636.1:p.Arg101Cys
ENST00000674737.1:c.301C>T	ENSP00000502464.1:p.Arg101Cys
ENST00000674807.1:c.301C>T	ENSP00000502814.1:p.Arg101Cys
ENST00000674815.1:c.-69C>T	ENSP00000502799.1:n.-69C>T
ENST00000674851.1:c.-69C>T	ENSP00000502451.1:n.-69C>T
ENST00000674969.1:n.341C>T
ENST00000675025.1:n.217C>T
ENST00000675051.1:c.100C>T	ENSP00000502296.1:p.Arg34Cys
ENST00000675529.1:c.*171C>T	ENSP00000501655.1:n.*171C>T
ENST00000675587.1:n.317C>T
ENST00000675651.1:c.301C>T	ENSP00000502513.1:p.Arg101Cys
ENST00000675693.1:c.133C>T	ENSP00000502174.1:p.Arg45Cys
ENST00000675810.1:c.223-1073C>T	ENSP00000502743.1:n.223-1073C>T
ENST00000675859.1:c.301C>T	ENSP00000502033.1:p.Arg101Cys
ENST00000675863.1:n.309C>T
ENST00000675886.1:n.329C>T
ENST00000676088.1:c.*171C>T	ENSP00000501884.1:n.*171C>T
ENST00000676140.1:c.301C>T	ENSP00000502571.1:p.Arg101Cys
ENST00000676164.1:c.301C>T	ENSP00000501986.1:p.Arg101Cys
ENST00000676210.1:c.301C>T	ENSP00000502373.1:p.Arg101Cys
ENST00000676259.1:c.301C>T	ENSP00000501980.1:p.Arg101Cys
ENST00000676403.1:c.301C>T	ENSP00000502681.1:p.Arg101Cys
XM_006715686.1:c.-69C>T	XP_006715749.1:n.-69C>T
XM_006715686.2:c.-69C>T	XP_006715749.1:n.-69C>T