Canonical Allele Identifier: CA367125541

Gene: GARS1

Linked Data

• ClinVar Variation Id: 447370
• ClinVar RCV Id: RCV000517313 ; RCV002231201
• dbSNP Id: rs1554338264
• MyVariant Identifiers: chr7:g.30651836C>T (hg19) ; chr7:g.30612220C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612220C>T , CM000669.2:g.30612220C>T	GRCh38
NC_000007.13:g.30651836C>T , CM000669.1:g.30651836C>T	GRCh37
NC_000007.12:g.30618361C>T	NCBI36
NG_007942.1:g.22656C>T , LRG_243:g.22656C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1006C>T MANE Select	ENSP00000373918.3:p.Pro336Ser
ENST00000444666.6:c.1006C>T	ENSP00000415447.2:p.Pro336Ser
ENST00000470392.2:n.1096C>T
ENST00000478124.6:n.1069C>T
ENST00000485784.2:n.1085C>T
ENST00000674616.1:c.*720C>T	ENSP00000502408.1:n.*720C>T
ENST00000674643.1:c.1006C>T	ENSP00000501636.1:p.Pro336Ser
ENST00000674734.1:n.1502C>T
ENST00000674737.1:c.*344C>T	ENSP00000502464.1:n.*344C>T
ENST00000674807.1:c.1006C>T	ENSP00000502814.1:p.Pro336Ser
ENST00000674815.1:c.637C>T	ENSP00000502799.1:p.Pro213Ser
ENST00000674851.1:c.637C>T	ENSP00000502451.1:p.Pro213Ser
ENST00000674969.1:n.2879C>T
ENST00000675051.1:c.805C>T	ENSP00000502296.1:p.Pro269Ser
ENST00000675529.1:c.*876C>T	ENSP00000501655.1:n.*876C>T
ENST00000675587.1:n.1022C>T
ENST00000675651.1:c.1006C>T	ENSP00000502513.1:p.Pro336Ser
ENST00000675693.1:c.838C>T	ENSP00000502174.1:p.Pro280Ser
ENST00000675810.1:c.904C>T	ENSP00000502743.1:p.Pro302Ser
ENST00000675859.1:c.1006C>T	ENSP00000502033.1:p.Pro336Ser
ENST00000675863.1:n.1014C>T
ENST00000675886.1:n.7046C>T
ENST00000676088.1:c.*948C>T	ENSP00000501884.1:n.*948C>T
ENST00000676140.1:c.1006C>T	ENSP00000502571.1:p.Pro336Ser
ENST00000676164.1:c.*457C>T	ENSP00000501986.1:n.*457C>T
ENST00000676210.1:c.*295C>T	ENSP00000502373.1:n.*295C>T
ENST00000676259.1:c.*438C>T	ENSP00000501980.1:n.*438C>T
ENST00000676403.1:c.1006C>T	ENSP00000502681.1:p.Pro336Ser
ENST00000389266.7:c.1006C>T	ENSP00000373918.3:p.Pro336Ser
ENST00000478124.5:n.1044C>T
NM_001316772.1:c.844C>T	NP_001303701.1:p.Pro282Ser
NM_002047.2:c.1006C>T , LRG_243t1:c.1006C>T	NP_002038.2:p.Pro336Ser
NM_002047.3:c.1006C>T	NP_002038.2:p.Pro336Ser
XM_006715686.1:c.637C>T	XP_006715749.1:p.Pro213Ser
XM_006715686.2:c.637C>T	XP_006715749.1:p.Pro213Ser
NM_002047.4:c.1006C>T MANE Select	NP_002038.2:p.Pro336Ser