Canonical Allele Identifier: CA367125545

Gene: GARS1

Linked Data

• ClinVar Variation Id: 1342184
• ClinVar RCV Id: RCV001838853
• dbSNP Id: rs2128134025
• MyVariant Identifiers: chr7:g.30651837C>A (hg19) ; chr7:g.30612221C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612221C>A , CM000669.2:g.30612221C>A	GRCh38
NC_000007.13:g.30651837C>A , CM000669.1:g.30651837C>A	GRCh37
NC_000007.12:g.30618362C>A	NCBI36
NG_007942.1:g.22657C>A , LRG_243:g.22657C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1007C>A MANE Select	ENSP00000373918.3:p.Pro336His
ENST00000444666.6:c.1007C>A	ENSP00000415447.2:p.Pro336His
ENST00000470392.2:n.1097C>A
ENST00000478124.6:n.1070C>A
ENST00000485784.2:n.1086C>A
ENST00000674616.1:c.*721C>A	ENSP00000502408.1:n.*721C>A
ENST00000674643.1:c.1007C>A	ENSP00000501636.1:p.Pro336His
ENST00000674734.1:n.1503C>A
ENST00000674737.1:c.*345C>A	ENSP00000502464.1:n.*345C>A
ENST00000674807.1:c.1007C>A	ENSP00000502814.1:p.Pro336His
ENST00000674815.1:c.638C>A	ENSP00000502799.1:p.Pro213His
ENST00000674851.1:c.638C>A	ENSP00000502451.1:p.Pro213His
ENST00000674969.1:n.2880C>A
ENST00000675051.1:c.806C>A	ENSP00000502296.1:p.Pro269His
ENST00000675529.1:c.*877C>A	ENSP00000501655.1:n.*877C>A
ENST00000675587.1:n.1023C>A
ENST00000675651.1:c.1007C>A	ENSP00000502513.1:p.Pro336His
ENST00000675693.1:c.839C>A	ENSP00000502174.1:p.Pro280His
ENST00000675810.1:c.905C>A	ENSP00000502743.1:p.Pro302His
ENST00000675859.1:c.1007C>A	ENSP00000502033.1:p.Pro336His
ENST00000675863.1:n.1015C>A
ENST00000675886.1:n.7047C>A
ENST00000676088.1:c.*949C>A	ENSP00000501884.1:n.*949C>A
ENST00000676140.1:c.1007C>A	ENSP00000502571.1:p.Pro336His
ENST00000676164.1:c.*458C>A	ENSP00000501986.1:n.*458C>A
ENST00000676210.1:c.*296C>A	ENSP00000502373.1:n.*296C>A
ENST00000676259.1:c.*439C>A	ENSP00000501980.1:n.*439C>A
ENST00000676403.1:c.1007C>A	ENSP00000502681.1:p.Pro336His
ENST00000389266.7:c.1007C>A	ENSP00000373918.3:p.Pro336His
ENST00000478124.5:n.1045C>A
NM_001316772.1:c.845C>A	NP_001303701.1:p.Pro282His
NM_002047.2:c.1007C>A , LRG_243t1:c.1007C>A	NP_002038.2:p.Pro336His
NM_002047.3:c.1007C>A	NP_002038.2:p.Pro336His
XM_006715686.1:c.638C>A	XP_006715749.1:p.Pro213His
XM_006715686.2:c.638C>A	XP_006715749.1:p.Pro213His
NM_002047.4:c.1007C>A MANE Select	NP_002038.2:p.Pro336His