Canonical Allele Identifier: CA367129442

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30665917T>G (hg19) ; chr7:g.30626301T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30626301T>G , CM000669.2:g.30626301T>G	GRCh38
NC_000007.13:g.30665917T>G , CM000669.1:g.30665917T>G	GRCh37
NC_000007.12:g.30632442T>G	NCBI36
NG_007942.1:g.36737T>G , LRG_243:g.36737T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1681T>G MANE Select	ENSP00000373918.3:p.Phe561Val
ENST00000444666.6:c.1681T>G	ENSP00000415447.2:p.Phe561Val
ENST00000470392.2:n.1771T>G
ENST00000485784.2:n.1760T>G
ENST00000674616.1:c.*1395T>G	ENSP00000502408.1:n.*1395T>G
ENST00000674643.1:c.*781T>G	ENSP00000501636.1:n.*781T>G
ENST00000674737.1:c.*1019T>G	ENSP00000502464.1:n.*1019T>G
ENST00000674807.1:c.1614-2259T>G	ENSP00000502814.1:n.1614-2259T>G
ENST00000674815.1:c.1312T>G	ENSP00000502799.1:p.Phe438Val
ENST00000674851.1:c.1312T>G	ENSP00000502451.1:p.Phe438Val
ENST00000674969.1:n.3554T>G
ENST00000675051.1:c.1480T>G	ENSP00000502296.1:p.Phe494Val
ENST00000675529.1:c.*1551T>G	ENSP00000501655.1:n.*1551T>G
ENST00000675587.1:n.2513T>G
ENST00000675651.1:c.1681T>G	ENSP00000502513.1:p.Phe561Val
ENST00000675693.1:c.1513T>G	ENSP00000502174.1:p.Phe505Val
ENST00000675810.1:c.1579T>G	ENSP00000502743.1:p.Phe527Val
ENST00000675859.1:c.1614-2259T>G	ENSP00000502033.1:n.1614-2259T>G
ENST00000675863.1:n.1689T>G
ENST00000675886.1:n.7721T>G
ENST00000676088.1:c.*1623T>G	ENSP00000501884.1:n.*1623T>G
ENST00000676140.1:c.*626T>G	ENSP00000502571.1:n.*626T>G
ENST00000676164.1:c.*1132T>G	ENSP00000501986.1:n.*1132T>G
ENST00000676210.1:c.*970T>G	ENSP00000502373.1:n.*970T>G
ENST00000676259.1:c.*1113T>G	ENSP00000501980.1:n.*1113T>G
ENST00000676403.1:c.1681T>G	ENSP00000502681.1:p.Phe561Val
ENST00000389266.7:c.1681T>G	ENSP00000373918.3:p.Phe561Val
ENST00000444666.5:c.202T>G	ENSP00000415447.1:p.Phe68Val
ENST00000470392.1:n.403T>G
NM_001316772.1:c.1519T>G	NP_001303701.1:p.Phe507Val
NM_002047.2:c.1681T>G , LRG_243t1:c.1681T>G	NP_002038.2:p.Phe561Val
NM_002047.3:c.1681T>G	NP_002038.2:p.Phe561Val
XM_006715686.1:c.1312T>G	XP_006715749.1:p.Phe438Val
XM_006715686.2:c.1312T>G	XP_006715749.1:p.Phe438Val
NM_002047.4:c.1681T>G MANE Select	NP_002038.2:p.Phe561Val