Canonical Allele Identifier: CA254706

Gene: GARS1

Linked Data

• ClinVar Variation Id: 9205
• ClinVar RCV Id: RCV000009783 ; RCV000857175 ; RCV001310958 ; RCV003332077
• dbSNP Id: rs137852644
• MyVariant Identifiers: chr7:g.30640795T>C (hg19) ; chr7:g.30601179T>C (hg38)
• PubMed: PMID:8541851 ; PMID:12690580

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30601179T>C , CM000669.2:g.30601179T>C	GRCh38
NC_000007.13:g.30640795T>C , CM000669.1:g.30640795T>C	GRCh37
NC_000007.12:g.30607320T>C	NCBI36
NG_007942.1:g.11615T>C , LRG_243:g.11615T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.548T>C MANE Select	ENSP00000373918.3:p.Leu183Pro
ENST00000444666.6:c.548T>C	ENSP00000415447.2:p.Leu183Pro
ENST00000454308.6:c.548T>C	ENSP00000392677.2:p.Leu183Pro
ENST00000470392.2:n.638T>C
ENST00000478124.6:n.611T>C
ENST00000485784.2:n.627T>C
ENST00000674616.1:c.*262T>C	ENSP00000502408.1:n.*262T>C
ENST00000674643.1:c.548T>C	ENSP00000501636.1:p.Leu183Pro
ENST00000674737.1:c.548T>C	ENSP00000502464.1:p.Leu183Pro
ENST00000674807.1:c.548T>C	ENSP00000502814.1:p.Leu183Pro
ENST00000674815.1:c.179T>C	ENSP00000502799.1:p.Leu60Pro
ENST00000674851.1:c.179T>C	ENSP00000502451.1:p.Leu60Pro
ENST00000674969.1:n.588T>C
ENST00000675025.1:n.464T>C
ENST00000675051.1:c.347T>C	ENSP00000502296.1:p.Leu116Pro
ENST00000675529.1:c.*418T>C	ENSP00000501655.1:n.*418T>C
ENST00000675587.1:n.564T>C
ENST00000675651.1:c.548T>C	ENSP00000502513.1:p.Leu183Pro
ENST00000675693.1:c.380T>C	ENSP00000502174.1:p.Leu127Pro
ENST00000675810.1:c.446T>C	ENSP00000502743.1:p.Leu149Pro
ENST00000675859.1:c.548T>C	ENSP00000502033.1:p.Leu183Pro
ENST00000675863.1:n.556T>C
ENST00000675886.1:n.576T>C
ENST00000676088.1:c.*418T>C	ENSP00000501884.1:n.*418T>C
ENST00000676140.1:c.548T>C	ENSP00000502571.1:p.Leu183Pro
ENST00000676164.1:c.548T>C	ENSP00000501986.1:p.Leu183Pro
ENST00000676210.1:c.548T>C	ENSP00000502373.1:p.Leu183Pro
ENST00000676259.1:c.478T>C	ENSP00000501980.1:p.Ser160Pro
ENST00000676403.1:c.548T>C	ENSP00000502681.1:p.Leu183Pro
ENST00000389266.7:c.548T>C	ENSP00000373918.3:p.Leu183Pro
ENST00000454308.5:c.*418T>C	ENSP00000392677.1:n.*418T>C
ENST00000478124.5:n.586T>C
NM_001316772.1:c.386T>C	NP_001303701.1:p.Leu129Pro
NM_002047.2:c.548T>C , LRG_243t1:c.548T>C	NP_002038.2:p.Leu183Pro
NM_002047.3:c.548T>C	NP_002038.2:p.Leu183Pro
XM_006715686.1:c.179T>C	XP_006715749.1:p.Leu60Pro
XM_006715686.2:c.179T>C	XP_006715749.1:p.Leu60Pro
NM_002047.4:c.548T>C MANE Select	NP_002038.2:p.Leu183Pro