Canonical Allele Identifier: CA367124470

Gene: GARS1

Linked Data

• ClinVar Variation Id: 637544
• ClinVar RCV Id: RCV000789774 ; RCV003447258
• dbSNP Id: rs1554337979
• MyVariant Identifiers: chr7:g.30649280T>A (hg19) ; chr7:g.30609664T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609664T>A , CM000669.2:g.30609664T>A	GRCh38
NC_000007.13:g.30649280T>A , CM000669.1:g.30649280T>A	GRCh37
NC_000007.12:g.30615805T>A	NCBI36
NG_007942.1:g.20100T>A , LRG_243:g.20100T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.815T>A MANE Select	ENSP00000373918.3:p.Leu272Gln
ENST00000444666.6:c.815T>A	ENSP00000415447.2:p.Leu272Gln
ENST00000470392.2:n.905T>A
ENST00000478124.6:n.878T>A
ENST00000485784.2:n.894T>A
ENST00000674616.1:c.*529T>A	ENSP00000502408.1:n.*529T>A
ENST00000674643.1:c.815T>A	ENSP00000501636.1:p.Leu272Gln
ENST00000674734.1:n.1311T>A
ENST00000674737.1:c.*153T>A	ENSP00000502464.1:n.*153T>A
ENST00000674807.1:c.815T>A	ENSP00000502814.1:p.Leu272Gln
ENST00000674815.1:c.446T>A	ENSP00000502799.1:p.Leu149Gln
ENST00000674851.1:c.446T>A	ENSP00000502451.1:p.Leu149Gln
ENST00000674969.1:n.2688T>A
ENST00000675051.1:c.614T>A	ENSP00000502296.1:p.Leu205Gln
ENST00000675529.1:c.*685T>A	ENSP00000501655.1:n.*685T>A
ENST00000675587.1:n.831T>A
ENST00000675651.1:c.815T>A	ENSP00000502513.1:p.Leu272Gln
ENST00000675693.1:c.647T>A	ENSP00000502174.1:p.Leu216Gln
ENST00000675810.1:c.713T>A	ENSP00000502743.1:p.Leu238Gln
ENST00000675859.1:c.815T>A	ENSP00000502033.1:p.Leu272Gln
ENST00000675863.1:n.823T>A
ENST00000675886.1:n.6855T>A
ENST00000676088.1:c.*757T>A	ENSP00000501884.1:n.*757T>A
ENST00000676140.1:c.815T>A	ENSP00000502571.1:p.Leu272Gln
ENST00000676164.1:c.*266T>A	ENSP00000501986.1:n.*266T>A
ENST00000676210.1:c.*104T>A	ENSP00000502373.1:n.*104T>A
ENST00000676259.1:c.*247T>A	ENSP00000501980.1:n.*247T>A
ENST00000676403.1:c.815T>A	ENSP00000502681.1:p.Leu272Gln
ENST00000389266.7:c.815T>A	ENSP00000373918.3:p.Leu272Gln
ENST00000478124.5:n.853T>A
NM_001316772.1:c.653T>A	NP_001303701.1:p.Leu218Gln
NM_002047.2:c.815T>A , LRG_243t1:c.815T>A	NP_002038.2:p.Leu272Gln
NM_002047.3:c.815T>A	NP_002038.2:p.Leu272Gln
XM_006715686.1:c.446T>A	XP_006715749.1:p.Leu149Gln
XM_006715686.2:c.446T>A	XP_006715749.1:p.Leu149Gln
NM_002047.4:c.815T>A MANE Select	NP_002038.2:p.Leu272Gln