Canonical Allele Identifier: CA254710

Gene: GARS1

Linked Data

• ClinVar Variation Id: 9207
• ClinVar RCV Id: RCV000009786 ; RCV000790258 ; RCV001542258 ; RCV002228024
• dbSNP Id: rs137852646
• MyVariant Identifiers: chr7:g.30668214G>C (hg19) ; chr7:g.30628598G>C (hg38)
• PubMed: PMID:12690580 ; PMID:16769947

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30628598G>C , CM000669.2:g.30628598G>C	GRCh38
NC_000007.13:g.30668214G>C , CM000669.1:g.30668214G>C	GRCh37
NC_000007.12:g.30634739G>C	NCBI36
NG_007942.1:g.39034G>C , LRG_243:g.39034G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1738G>C MANE Select	ENSP00000373918.3:p.Gly580Arg
ENST00000444666.6:c.*159G>C	ENSP00000415447.2:n.*159G>C
ENST00000465748.2:n.1219G>C
ENST00000470392.2:n.1828G>C
ENST00000485784.2:n.1817G>C
ENST00000496643.2:n.55G>C
ENST00000674616.1:c.*1452G>C	ENSP00000502408.1:n.*1452G>C
ENST00000674643.1:c.*838G>C	ENSP00000501636.1:n.*838G>C
ENST00000674737.1:c.*1076G>C	ENSP00000502464.1:n.*1076G>C
ENST00000674807.1:c.*11G>C	ENSP00000502814.1:n.*11G>C
ENST00000674815.1:c.1369G>C	ENSP00000502799.1:p.Gly457Arg
ENST00000674851.1:c.1369G>C	ENSP00000502451.1:p.Gly457Arg
ENST00000674969.1:n.3611G>C
ENST00000675051.1:c.1537G>C	ENSP00000502296.1:p.Gly513Arg
ENST00000675529.1:c.*1608G>C	ENSP00000501655.1:n.*1608G>C
ENST00000675587.1:n.2570G>C
ENST00000675651.1:c.1738G>C	ENSP00000502513.1:p.Gly580Arg
ENST00000675693.1:c.1570G>C	ENSP00000502174.1:p.Gly524Arg
ENST00000675810.1:c.1636G>C	ENSP00000502743.1:p.Gly546Arg
ENST00000675859.1:c.*11G>C	ENSP00000502033.1:n.*11G>C
ENST00000675863.1:n.1746G>C
ENST00000675886.1:n.7778G>C
ENST00000676088.1:c.*1680G>C	ENSP00000501884.1:n.*1680G>C
ENST00000676140.1:c.*683G>C	ENSP00000502571.1:n.*683G>C
ENST00000676164.1:c.*1189G>C	ENSP00000501986.1:n.*1189G>C
ENST00000676210.1:c.*1027G>C	ENSP00000502373.1:n.*1027G>C
ENST00000676259.1:c.*1170G>C	ENSP00000501980.1:n.*1170G>C
ENST00000676403.1:c.1738G>C	ENSP00000502681.1:p.Gly580Arg
ENST00000389266.7:c.1738G>C	ENSP00000373918.3:p.Gly580Arg
ENST00000444666.5:c.393G>C	ENSP00000415447.1:n.393G>C
ENST00000465748.1:n.109G>C
ENST00000470392.1:n.460G>C
NM_001316772.1:c.1576G>C	NP_001303701.1:p.Gly526Arg
NM_002047.2:c.1738G>C , LRG_243t1:c.1738G>C	NP_002038.2:p.Gly580Arg
NM_002047.3:c.1738G>C	NP_002038.2:p.Gly580Arg
XM_006715686.1:c.1369G>C	XP_006715749.1:p.Gly457Arg
XM_006715686.2:c.1369G>C	XP_006715749.1:p.Gly457Arg
NM_002047.4:c.1738G>C MANE Select	NP_002038.2:p.Gly580Arg