Canonical Allele Identifier: CA1697807583

Gene: GARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609637_30609640delinsTAAA , CM000669.2:g.30609637_30609640delinsTAAA	GRCh38
NC_000007.13:g.30649253_30649256delinsTAAA , CM000669.1:g.30649253_30649256delinsTAAA	GRCh37
NC_000007.12:g.30615778_30615781delinsTAAA	NCBI36
NG_007942.1:g.20073_20076delinsTAAA , LRG_243:g.20073_20076delinsTAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.788_791delinsTAAA MANE Select	ENSP00000373918.3:p.Val263=
ENST00000444666.6:c.788_791delinsTAAA	ENSP00000415447.2:p.Val263=
ENST00000470392.2:n.878_881delinsTAAA
ENST00000478124.6:n.851_854delinsTAAA
ENST00000485784.2:n.867_870delinsTAAA
ENST00000674616.1:c.*502_*505delinsTAAA	ENSP00000502408.1:n.*502_*505delinsTAAA
ENST00000674643.1:c.788_791delinsTAAA	ENSP00000501636.1:p.Val263=
ENST00000674734.1:n.1284_1287delinsTAAA
ENST00000674737.1:c.*126_*129delinsTAAA	ENSP00000502464.1:n.*126_*129delinsTAAA
ENST00000674807.1:c.788_791delinsTAAA	ENSP00000502814.1:p.Val263=
ENST00000674815.1:c.419_422delinsTAAA	ENSP00000502799.1:p.Val140=
ENST00000674851.1:c.419_422delinsTAAA	ENSP00000502451.1:p.Val140=
ENST00000674969.1:n.2661_2664delinsTAAA
ENST00000675051.1:c.587_590delinsTAAA	ENSP00000502296.1:p.Val196=
ENST00000675529.1:c.*658_*661delinsTAAA	ENSP00000501655.1:n.*658_*661delinsTAAA
ENST00000675587.1:n.804_807delinsTAAA
ENST00000675651.1:c.788_791delinsTAAA	ENSP00000502513.1:p.Val263=
ENST00000675693.1:c.620_623delinsTAAA	ENSP00000502174.1:p.Val207=
ENST00000675810.1:c.686_689delinsTAAA	ENSP00000502743.1:p.Val229=
ENST00000675859.1:c.788_791delinsTAAA	ENSP00000502033.1:p.Val263=
ENST00000675863.1:n.796_799delinsTAAA
ENST00000675886.1:n.6828_6831delinsTAAA
ENST00000676088.1:c.*730_*733delinsTAAA	ENSP00000501884.1:n.*730_*733delinsTAAA
ENST00000676140.1:c.788_791delinsTAAA	ENSP00000502571.1:p.Val263=
ENST00000676164.1:c.*239_*242delinsTAAA	ENSP00000501986.1:n.*239_*242delinsTAAA
ENST00000676210.1:c.*77_*80delinsTAAA	ENSP00000502373.1:n.*77_*80delinsTAAA
ENST00000676259.1:c.*220_*223delinsTAAA	ENSP00000501980.1:n.*220_*223delinsTAAA
ENST00000676403.1:c.788_791delinsTAAA	ENSP00000502681.1:p.Val263=
ENST00000389266.7:c.788_791delinsTAAA	ENSP00000373918.3:p.Val263=
ENST00000478124.5:n.826_829delinsTAAA
NM_001316772.1:c.626_629delinsTAAA	NP_001303701.1:p.Val209=
NM_002047.2:c.788_791delinsTAAA , LRG_243t1:c.788_791delinsTAAA	NP_002038.2:p.Val263=
NM_002047.3:c.788_791delinsTAAA	NP_002038.2:p.Val263=
XM_006715686.1:c.419_422delinsTAAA	XP_006715749.1:p.Val140=
XM_006715686.2:c.419_422delinsTAAA	XP_006715749.1:p.Val140=
NM_002047.4:c.788_791delinsTAAA MANE Select	NP_002038.2:p.Val263=