Canonical Allele Identifier: CA454254044

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30661083C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30621467C>T , CM000669.2:g.30621467C>T	GRCh38
NC_000007.13:g.30661083C>T , CM000669.1:g.30661083C>T	GRCh37
NC_000007.12:g.30627608C>T	NCBI36
NG_007942.1:g.31903C>T , LRG_243:g.31903C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1434C>T MANE Select	ENSP00000373918.3:p.Val478=
ENST00000444666.6:c.1434C>T	ENSP00000415447.2:p.Val478=
ENST00000470392.2:n.1524C>T
ENST00000478124.6:n.1497C>T
ENST00000485784.2:n.1513C>T
ENST00000674616.1:c.*1148C>T	ENSP00000502408.1:n.*1148C>T
ENST00000674643.1:c.*534C>T	ENSP00000501636.1:n.*534C>T
ENST00000674734.1:n.1930C>T
ENST00000674737.1:c.*772C>T	ENSP00000502464.1:n.*772C>T
ENST00000674807.1:c.1434C>T	ENSP00000502814.1:p.Val478=
ENST00000674815.1:c.1065C>T	ENSP00000502799.1:p.Val355=
ENST00000674851.1:c.1065C>T	ENSP00000502451.1:p.Val355=
ENST00000674969.1:n.3307C>T
ENST00000675051.1:c.1233C>T	ENSP00000502296.1:p.Val411=
ENST00000675529.1:c.*1304C>T	ENSP00000501655.1:n.*1304C>T
ENST00000675587.1:n.1450C>T
ENST00000675651.1:c.1434C>T	ENSP00000502513.1:p.Val478=
ENST00000675693.1:c.1266C>T	ENSP00000502174.1:p.Val422=
ENST00000675810.1:c.1332C>T	ENSP00000502743.1:p.Val444=
ENST00000675859.1:c.1434C>T	ENSP00000502033.1:p.Val478=
ENST00000675863.1:n.1442C>T
ENST00000675886.1:n.7474C>T
ENST00000676088.1:c.*1376C>T	ENSP00000501884.1:n.*1376C>T
ENST00000676140.1:c.*379C>T	ENSP00000502571.1:n.*379C>T
ENST00000676164.1:c.*885C>T	ENSP00000501986.1:n.*885C>T
ENST00000676210.1:c.*723C>T	ENSP00000502373.1:n.*723C>T
ENST00000676259.1:c.*866C>T	ENSP00000501980.1:n.*866C>T
ENST00000676403.1:c.1434C>T	ENSP00000502681.1:p.Val478=
ENST00000389266.7:c.1434C>T	ENSP00000373918.3:p.Val478=
ENST00000478124.5:n.1472C>T
ENST00000484093.1:n.433C>T
NM_001316772.1:c.1272C>T	NP_001303701.1:p.Val424=
NM_002047.2:c.1434C>T , LRG_243t1:c.1434C>T	NP_002038.2:p.Val478=
NM_002047.3:c.1434C>T	NP_002038.2:p.Val478=
XM_006715686.1:c.1065C>T	XP_006715749.1:p.Val355=
XM_006715686.2:c.1065C>T	XP_006715749.1:p.Val355=
NM_002047.4:c.1434C>T MANE Select	NP_002038.2:p.Val478=