Canonical Allele Identifier: CA454253921

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30661059C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30621443C>T , CM000669.2:g.30621443C>T	GRCh38
NC_000007.13:g.30661059C>T , CM000669.1:g.30661059C>T	GRCh37
NC_000007.12:g.30627584C>T	NCBI36
NG_007942.1:g.31879C>T , LRG_243:g.31879C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1410C>T MANE Select	ENSP00000373918.3:p.Ser470=
ENST00000444666.6:c.1410C>T	ENSP00000415447.2:p.Ser470=
ENST00000470392.2:n.1500C>T
ENST00000478124.6:n.1473C>T
ENST00000485784.2:n.1489C>T
ENST00000674616.1:c.*1124C>T	ENSP00000502408.1:n.*1124C>T
ENST00000674643.1:c.*510C>T	ENSP00000501636.1:n.*510C>T
ENST00000674734.1:n.1906C>T
ENST00000674737.1:c.*748C>T	ENSP00000502464.1:n.*748C>T
ENST00000674807.1:c.1410C>T	ENSP00000502814.1:p.Ser470=
ENST00000674815.1:c.1041C>T	ENSP00000502799.1:p.Ser347=
ENST00000674851.1:c.1041C>T	ENSP00000502451.1:p.Ser347=
ENST00000674969.1:n.3283C>T
ENST00000675051.1:c.1209C>T	ENSP00000502296.1:p.Ser403=
ENST00000675529.1:c.*1280C>T	ENSP00000501655.1:n.*1280C>T
ENST00000675587.1:n.1426C>T
ENST00000675651.1:c.1410C>T	ENSP00000502513.1:p.Ser470=
ENST00000675693.1:c.1242C>T	ENSP00000502174.1:p.Ser414=
ENST00000675810.1:c.1308C>T	ENSP00000502743.1:p.Ser436=
ENST00000675859.1:c.1410C>T	ENSP00000502033.1:p.Ser470=
ENST00000675863.1:n.1418C>T
ENST00000675886.1:n.7450C>T
ENST00000676088.1:c.*1352C>T	ENSP00000501884.1:n.*1352C>T
ENST00000676140.1:c.*355C>T	ENSP00000502571.1:n.*355C>T
ENST00000676164.1:c.*861C>T	ENSP00000501986.1:n.*861C>T
ENST00000676210.1:c.*699C>T	ENSP00000502373.1:n.*699C>T
ENST00000676259.1:c.*842C>T	ENSP00000501980.1:n.*842C>T
ENST00000676403.1:c.1410C>T	ENSP00000502681.1:p.Ser470=
ENST00000389266.7:c.1410C>T	ENSP00000373918.3:p.Ser470=
ENST00000478124.5:n.1448C>T
ENST00000484093.1:n.409C>T
NM_001316772.1:c.1248C>T	NP_001303701.1:p.Ser416=
NM_002047.2:c.1410C>T , LRG_243t1:c.1410C>T	NP_002038.2:p.Ser470=
NM_002047.3:c.1410C>T	NP_002038.2:p.Ser470=
XM_006715686.1:c.1041C>T	XP_006715749.1:p.Ser347=
XM_006715686.2:c.1041C>T	XP_006715749.1:p.Ser347=
NM_002047.4:c.1410C>T MANE Select	NP_002038.2:p.Ser470=