Canonical Allele Identifier: CA348795

Gene: GARS1

Linked Data

• ClinVar Variation Id: 219915
• ClinVar RCV Id: RCV000204574 ; RCV000297480 ; RCV000404976 ; RCV000711741 ; RCV001095175 ; RCV003891775 ; RCV004020514 ; RCV001174160
• dbSNP Id: rs201927627
• ExAC: 7:30671921 C / T
• gnomAD v2: 7-30671921-C-T
• gnomAD v3: 7-30632305-C-T
• gnomAD v4: 7-30632305-C-T
• MyVariant Identifiers: chr7:g.30671921C>T (hg19) ; chr7:g.30632305C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30632305C>T , CM000669.2:g.30632305C>T	GRCh38
NC_000007.13:g.30671921C>T , CM000669.1:g.30671921C>T	GRCh37
NC_000007.12:g.30638446C>T	NCBI36
NG_007942.1:g.42741C>T , LRG_243:g.42741C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1962C>T MANE Select	ENSP00000373918.3:p.Ile654=
ENST00000444666.6:c.*383C>T	ENSP00000415447.2:n.*383C>T
ENST00000465748.2:n.1443C>T
ENST00000470392.2:n.5535C>T
ENST00000485784.2:n.4819C>T
ENST00000496643.2:n.3762C>T
ENST00000674616.1:c.*1676C>T	ENSP00000502408.1:n.*1676C>T
ENST00000674643.1:c.*1767C>T	ENSP00000501636.1:n.*1767C>T
ENST00000674737.1:c.*1300C>T	ENSP00000502464.1:n.*1300C>T
ENST00000674807.1:c.*235C>T	ENSP00000502814.1:n.*235C>T
ENST00000674815.1:c.1593C>T	ENSP00000502799.1:p.Ile531=
ENST00000674851.1:c.1593C>T	ENSP00000502451.1:p.Ile531=
ENST00000674969.1:n.3835C>T
ENST00000675051.1:c.1761C>T	ENSP00000502296.1:p.Ile587=
ENST00000675529.1:c.*1832C>T	ENSP00000501655.1:n.*1832C>T
ENST00000675587.1:n.2794C>T
ENST00000675651.1:c.1980C>T	ENSP00000502513.1:p.Ile660=
ENST00000675693.1:c.1794C>T	ENSP00000502174.1:p.Ile598=
ENST00000675810.1:c.1860C>T	ENSP00000502743.1:p.Ile620=
ENST00000675859.1:c.*141C>T	ENSP00000502033.1:n.*141C>T
ENST00000675863.1:n.2675C>T
ENST00000675886.1:n.8002C>T
ENST00000676088.1:c.*1904C>T	ENSP00000501884.1:n.*1904C>T
ENST00000676140.1:c.*907C>T	ENSP00000502571.1:n.*907C>T
ENST00000676164.1:c.*1413C>T	ENSP00000501986.1:n.*1413C>T
ENST00000676210.1:c.*1251C>T	ENSP00000502373.1:n.*1251C>T
ENST00000676259.1:c.*1394C>T	ENSP00000501980.1:n.*1394C>T
ENST00000676403.1:c.*47C>T	ENSP00000502681.1:n.*47C>T
ENST00000389266.7:c.1962C>T	ENSP00000373918.3:p.Ile654=
ENST00000444666.5:c.617C>T	ENSP00000415447.1:n.617C>T
ENST00000465748.1:n.333C>T
ENST00000485784.1:n.452C>T
ENST00000496643.1:n.341C>T
NM_001316772.1:c.1800C>T	NP_001303701.1:p.Ile600=
NM_002047.2:c.1962C>T , LRG_243t1:c.1962C>T	NP_002038.2:p.Ile654=
NM_002047.3:c.1962C>T	NP_002038.2:p.Ile654=
XM_006715686.1:c.1593C>T	XP_006715749.1:p.Ile531=
XM_006715686.2:c.1593C>T	XP_006715749.1:p.Ile531=
NM_002047.4:c.1962C>T MANE Select	NP_002038.2:p.Ile654=