Canonical Allele Identifier: CA16612353

Gene: GARS1

Linked Data

• ClinVar Variation Id: 410315
• ClinVar RCV Id: RCV000468725
• dbSNP Id: rs1060502839
• MyVariant Identifiers: chr7:g.30668181G>A (hg19) ; chr7:g.30628565G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30628565G>A , CM000669.2:g.30628565G>A	GRCh38
NC_000007.13:g.30668181G>A , CM000669.1:g.30668181G>A	GRCh37
NC_000007.12:g.30634706G>A	NCBI36
NG_007942.1:g.39001G>A , LRG_243:g.39001G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1705G>A MANE Select	ENSP00000373918.3:p.Glu569Lys
ENST00000444666.6:c.*126G>A	ENSP00000415447.2:n.*126G>A
ENST00000465748.2:n.1186G>A
ENST00000470392.2:n.1795G>A
ENST00000485784.2:n.1784G>A
ENST00000496643.2:n.22G>A
ENST00000674616.1:c.*1419G>A	ENSP00000502408.1:n.*1419G>A
ENST00000674643.1:c.*805G>A	ENSP00000501636.1:n.*805G>A
ENST00000674737.1:c.*1043G>A	ENSP00000502464.1:n.*1043G>A
ENST00000674807.1:c.1619G>A	ENSP00000502814.1:p.Arg540Lys
ENST00000674815.1:c.1336G>A	ENSP00000502799.1:p.Glu446Lys
ENST00000674851.1:c.1336G>A	ENSP00000502451.1:p.Glu446Lys
ENST00000674969.1:n.3578G>A
ENST00000675051.1:c.1504G>A	ENSP00000502296.1:p.Glu502Lys
ENST00000675529.1:c.*1575G>A	ENSP00000501655.1:n.*1575G>A
ENST00000675587.1:n.2537G>A
ENST00000675651.1:c.1705G>A	ENSP00000502513.1:p.Glu569Lys
ENST00000675693.1:c.1537G>A	ENSP00000502174.1:p.Glu513Lys
ENST00000675810.1:c.1603G>A	ENSP00000502743.1:p.Glu535Lys
ENST00000675859.1:c.1619G>A	ENSP00000502033.1:p.Arg540Lys
ENST00000675863.1:n.1713G>A
ENST00000675886.1:n.7745G>A
ENST00000676088.1:c.*1647G>A	ENSP00000501884.1:n.*1647G>A
ENST00000676140.1:c.*650G>A	ENSP00000502571.1:n.*650G>A
ENST00000676164.1:c.*1156G>A	ENSP00000501986.1:n.*1156G>A
ENST00000676210.1:c.*994G>A	ENSP00000502373.1:n.*994G>A
ENST00000676259.1:c.*1137G>A	ENSP00000501980.1:n.*1137G>A
ENST00000676403.1:c.1705G>A	ENSP00000502681.1:p.Glu569Lys
ENST00000389266.7:c.1705G>A	ENSP00000373918.3:p.Glu569Lys
ENST00000444666.5:c.360G>A	ENSP00000415447.1:n.360G>A
ENST00000465748.1:n.76G>A
ENST00000470392.1:n.427G>A
NM_001316772.1:c.1543G>A	NP_001303701.1:p.Glu515Lys
NM_002047.2:c.1705G>A , LRG_243t1:c.1705G>A	NP_002038.2:p.Glu569Lys
NM_002047.3:c.1705G>A	NP_002038.2:p.Glu569Lys
XM_006715686.1:c.1336G>A	XP_006715749.1:p.Glu446Lys
XM_006715686.2:c.1336G>A	XP_006715749.1:p.Glu446Lys
NM_002047.4:c.1705G>A MANE Select	NP_002038.2:p.Glu569Lys