Canonical Allele Identifier: CA454246981

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30651790T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612174T>G , CM000669.2:g.30612174T>G	GRCh38
NC_000007.13:g.30651790T>G , CM000669.1:g.30651790T>G	GRCh37
NC_000007.12:g.30618315T>G	NCBI36
NG_007942.1:g.22610T>G , LRG_243:g.22610T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.960T>G MANE Select	ENSP00000373918.3:p.Pro320=
ENST00000444666.6:c.960T>G	ENSP00000415447.2:p.Pro320=
ENST00000470392.2:n.1050T>G
ENST00000478124.6:n.1023T>G
ENST00000485784.2:n.1039T>G
ENST00000674616.1:c.*674T>G	ENSP00000502408.1:n.*674T>G
ENST00000674643.1:c.960T>G	ENSP00000501636.1:p.Pro320=
ENST00000674734.1:n.1456T>G
ENST00000674737.1:c.*298T>G	ENSP00000502464.1:n.*298T>G
ENST00000674807.1:c.960T>G	ENSP00000502814.1:p.Pro320=
ENST00000674815.1:c.591T>G	ENSP00000502799.1:p.Pro197=
ENST00000674851.1:c.591T>G	ENSP00000502451.1:p.Pro197=
ENST00000674969.1:n.2833T>G
ENST00000675051.1:c.759T>G	ENSP00000502296.1:p.Pro253=
ENST00000675529.1:c.*830T>G	ENSP00000501655.1:n.*830T>G
ENST00000675587.1:n.976T>G
ENST00000675651.1:c.960T>G	ENSP00000502513.1:p.Pro320=
ENST00000675693.1:c.792T>G	ENSP00000502174.1:p.Pro264=
ENST00000675810.1:c.858T>G	ENSP00000502743.1:p.Pro286=
ENST00000675859.1:c.960T>G	ENSP00000502033.1:p.Pro320=
ENST00000675863.1:n.968T>G
ENST00000675886.1:n.7000T>G
ENST00000676088.1:c.*902T>G	ENSP00000501884.1:n.*902T>G
ENST00000676140.1:c.960T>G	ENSP00000502571.1:p.Pro320=
ENST00000676164.1:c.*411T>G	ENSP00000501986.1:n.*411T>G
ENST00000676210.1:c.*249T>G	ENSP00000502373.1:n.*249T>G
ENST00000676259.1:c.*392T>G	ENSP00000501980.1:n.*392T>G
ENST00000676403.1:c.960T>G	ENSP00000502681.1:p.Pro320=
ENST00000389266.7:c.960T>G	ENSP00000373918.3:p.Pro320=
ENST00000478124.5:n.998T>G
NM_001316772.1:c.798T>G	NP_001303701.1:p.Pro266=
NM_002047.2:c.960T>G , LRG_243t1:c.960T>G	NP_002038.2:p.Pro320=
NM_002047.3:c.960T>G	NP_002038.2:p.Pro320=
XM_006715686.1:c.591T>G	XP_006715749.1:p.Pro197=
XM_006715686.2:c.591T>G	XP_006715749.1:p.Pro197=
NM_002047.4:c.960T>G MANE Select	NP_002038.2:p.Pro320=