Canonical Allele Identifier: CA1697769535

Gene: GARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30621424_30621425delinsGT , CM000669.2:g.30621424_30621425delinsGT	GRCh38
NC_000007.13:g.30661040_30661041delinsGT , CM000669.1:g.30661040_30661041delinsGT	GRCh37
NC_000007.12:g.30627565_30627566delinsGT	NCBI36
NG_007942.1:g.31860_31861delinsGT , LRG_243:g.31860_31861delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1391_1392delinsGT MANE Select	ENSP00000373918.3:p.Arg464=
ENST00000444666.6:c.1391_1392delinsGT	ENSP00000415447.2:p.Arg464=
ENST00000470392.2:n.1481_1482delinsGT
ENST00000478124.6:n.1454_1455delinsGT
ENST00000485784.2:n.1470_1471delinsGT
ENST00000674616.1:c.*1105_*1106delinsGT	ENSP00000502408.1:n.*1105_*1106delinsGT
ENST00000674643.1:c.*491_*492delinsGT	ENSP00000501636.1:n.*491_*492delinsGT
ENST00000674734.1:n.1887_1888delinsGT
ENST00000674737.1:c.*729_*730delinsGT	ENSP00000502464.1:n.*729_*730delinsGT
ENST00000674807.1:c.1391_1392delinsGT	ENSP00000502814.1:p.Arg464=
ENST00000674815.1:c.1022_1023delinsGT	ENSP00000502799.1:p.Arg341=
ENST00000674851.1:c.1022_1023delinsGT	ENSP00000502451.1:p.Arg341=
ENST00000674969.1:n.3264_3265delinsGT
ENST00000675051.1:c.1190_1191delinsGT	ENSP00000502296.1:p.Arg397=
ENST00000675529.1:c.*1261_*1262delinsGT	ENSP00000501655.1:n.*1261_*1262delinsGT
ENST00000675587.1:n.1407_1408delinsGT
ENST00000675651.1:c.1391_1392delinsGT	ENSP00000502513.1:p.Arg464=
ENST00000675693.1:c.1223_1224delinsGT	ENSP00000502174.1:p.Arg408=
ENST00000675810.1:c.1289_1290delinsGT	ENSP00000502743.1:p.Arg430=
ENST00000675859.1:c.1391_1392delinsGT	ENSP00000502033.1:p.Arg464=
ENST00000675863.1:n.1399_1400delinsGT
ENST00000675886.1:n.7431_7432delinsGT
ENST00000676088.1:c.*1333_*1334delinsGT	ENSP00000501884.1:n.*1333_*1334delinsGT
ENST00000676140.1:c.*336_*337delinsGT	ENSP00000502571.1:n.*336_*337delinsGT
ENST00000676164.1:c.*842_*843delinsGT	ENSP00000501986.1:n.*842_*843delinsGT
ENST00000676210.1:c.*680_*681delinsGT	ENSP00000502373.1:n.*680_*681delinsGT
ENST00000676259.1:c.*823_*824delinsGT	ENSP00000501980.1:n.*823_*824delinsGT
ENST00000676403.1:c.1391_1392delinsGT	ENSP00000502681.1:p.Arg464=
ENST00000389266.7:c.1391_1392delinsGT	ENSP00000373918.3:p.Arg464=
ENST00000478124.5:n.1429_1430delinsGT
ENST00000484093.1:n.390_391delinsGT
NM_001316772.1:c.1229_1230delinsGT	NP_001303701.1:p.Arg410=
NM_002047.2:c.1391_1392delinsGT , LRG_243t1:c.1391_1392delinsGT	NP_002038.2:p.Arg464=
NM_002047.3:c.1391_1392delinsGT	NP_002038.2:p.Arg464=
XM_006715686.1:c.1022_1023delinsGT	XP_006715749.1:p.Arg341=
XM_006715686.2:c.1022_1023delinsGT	XP_006715749.1:p.Arg341=
NM_002047.4:c.1391_1392delinsGT MANE Select	NP_002038.2:p.Arg464=