Canonical Allele Identifier: CA367129461

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30665924A>T (hg19) ; chr7:g.30626308A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30626308A>T , CM000669.2:g.30626308A>T	GRCh38
NC_000007.13:g.30665924A>T , CM000669.1:g.30665924A>T	GRCh37
NC_000007.12:g.30632449A>T	NCBI36
NG_007942.1:g.36744A>T , LRG_243:g.36744A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1688A>T MANE Select	ENSP00000373918.3:p.Lys563Ile
ENST00000444666.6:c.1688A>T	ENSP00000415447.2:p.Lys563Ile
ENST00000470392.2:n.1778A>T
ENST00000485784.2:n.1767A>T
ENST00000674616.1:c.*1402A>T	ENSP00000502408.1:n.*1402A>T
ENST00000674643.1:c.*788A>T	ENSP00000501636.1:n.*788A>T
ENST00000674737.1:c.*1026A>T	ENSP00000502464.1:n.*1026A>T
ENST00000674807.1:c.1614-2252A>T	ENSP00000502814.1:n.1614-2252A>T
ENST00000674815.1:c.1319A>T	ENSP00000502799.1:p.Lys440Ile
ENST00000674851.1:c.1319A>T	ENSP00000502451.1:p.Lys440Ile
ENST00000674969.1:n.3561A>T
ENST00000675051.1:c.1487A>T	ENSP00000502296.1:p.Lys496Ile
ENST00000675529.1:c.*1558A>T	ENSP00000501655.1:n.*1558A>T
ENST00000675587.1:n.2520A>T
ENST00000675651.1:c.1688A>T	ENSP00000502513.1:p.Lys563Ile
ENST00000675693.1:c.1520A>T	ENSP00000502174.1:p.Lys507Ile
ENST00000675810.1:c.1586A>T	ENSP00000502743.1:p.Lys529Ile
ENST00000675859.1:c.1614-2252A>T	ENSP00000502033.1:n.1614-2252A>T
ENST00000675863.1:n.1696A>T
ENST00000675886.1:n.7728A>T
ENST00000676088.1:c.*1630A>T	ENSP00000501884.1:n.*1630A>T
ENST00000676140.1:c.*633A>T	ENSP00000502571.1:n.*633A>T
ENST00000676164.1:c.*1139A>T	ENSP00000501986.1:n.*1139A>T
ENST00000676210.1:c.*977A>T	ENSP00000502373.1:n.*977A>T
ENST00000676259.1:c.*1120A>T	ENSP00000501980.1:n.*1120A>T
ENST00000676403.1:c.1688A>T	ENSP00000502681.1:p.Lys563Ile
ENST00000389266.7:c.1688A>T	ENSP00000373918.3:p.Lys563Ile
ENST00000444666.5:c.209A>T	ENSP00000415447.1:p.Lys70Ile
ENST00000470392.1:n.410A>T
NM_001316772.1:c.1526A>T	NP_001303701.1:p.Lys509Ile
NM_002047.2:c.1688A>T , LRG_243t1:c.1688A>T	NP_002038.2:p.Lys563Ile
NM_002047.3:c.1688A>T	NP_002038.2:p.Lys563Ile
XM_006715686.1:c.1319A>T	XP_006715749.1:p.Lys440Ile
XM_006715686.2:c.1319A>T	XP_006715749.1:p.Lys440Ile
NM_002047.4:c.1688A>T MANE Select	NP_002038.2:p.Lys563Ile