Canonical Allele Identifier: CA367128246

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30661078A>T (hg19) ; chr7:g.30621462A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30621462A>T , CM000669.2:g.30621462A>T	GRCh38
NC_000007.13:g.30661078A>T , CM000669.1:g.30661078A>T	GRCh37
NC_000007.12:g.30627603A>T	NCBI36
NG_007942.1:g.31898A>T , LRG_243:g.31898A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1429A>T MANE Select	ENSP00000373918.3:p.Lys477Ter
ENST00000444666.6:c.1429A>T	ENSP00000415447.2:p.Lys477Ter
ENST00000470392.2:n.1519A>T
ENST00000478124.6:n.1492A>T
ENST00000485784.2:n.1508A>T
ENST00000674616.1:c.*1143A>T	ENSP00000502408.1:n.*1143A>T
ENST00000674643.1:c.*529A>T	ENSP00000501636.1:n.*529A>T
ENST00000674734.1:n.1925A>T
ENST00000674737.1:c.*767A>T	ENSP00000502464.1:n.*767A>T
ENST00000674807.1:c.1429A>T	ENSP00000502814.1:p.Lys477Ter
ENST00000674815.1:c.1060A>T	ENSP00000502799.1:p.Lys354Ter
ENST00000674851.1:c.1060A>T	ENSP00000502451.1:p.Lys354Ter
ENST00000674969.1:n.3302A>T
ENST00000675051.1:c.1228A>T	ENSP00000502296.1:p.Lys410Ter
ENST00000675529.1:c.*1299A>T	ENSP00000501655.1:n.*1299A>T
ENST00000675587.1:n.1445A>T
ENST00000675651.1:c.1429A>T	ENSP00000502513.1:p.Lys477Ter
ENST00000675693.1:c.1261A>T	ENSP00000502174.1:p.Lys421Ter
ENST00000675810.1:c.1327A>T	ENSP00000502743.1:p.Lys443Ter
ENST00000675859.1:c.1429A>T	ENSP00000502033.1:p.Lys477Ter
ENST00000675863.1:n.1437A>T
ENST00000675886.1:n.7469A>T
ENST00000676088.1:c.*1371A>T	ENSP00000501884.1:n.*1371A>T
ENST00000676140.1:c.*374A>T	ENSP00000502571.1:n.*374A>T
ENST00000676164.1:c.*880A>T	ENSP00000501986.1:n.*880A>T
ENST00000676210.1:c.*718A>T	ENSP00000502373.1:n.*718A>T
ENST00000676259.1:c.*861A>T	ENSP00000501980.1:n.*861A>T
ENST00000676403.1:c.1429A>T	ENSP00000502681.1:p.Lys477Ter
ENST00000389266.7:c.1429A>T	ENSP00000373918.3:p.Lys477Ter
ENST00000478124.5:n.1467A>T
ENST00000484093.1:n.428A>T
NM_001316772.1:c.1267A>T	NP_001303701.1:p.Lys423Ter
NM_002047.2:c.1429A>T , LRG_243t1:c.1429A>T	NP_002038.2:p.Lys477Ter
NM_002047.3:c.1429A>T	NP_002038.2:p.Lys477Ter
XM_006715686.1:c.1060A>T	XP_006715749.1:p.Lys354Ter
XM_006715686.2:c.1060A>T	XP_006715749.1:p.Lys354Ter
NM_002047.4:c.1429A>T MANE Select	NP_002038.2:p.Lys477Ter