Canonical Allele Identifier: CA367125118

Gene: GARS1

Linked Data

• ClinVar Variation Id: 1680919
• ClinVar RCV Id: RCV002238441
• dbSNP Id: rs2128134021
• MyVariant Identifiers: chr7:g.30651798C>T (hg19) ; chr7:g.30612182C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612182C>T , CM000669.2:g.30612182C>T	GRCh38
NC_000007.13:g.30651798C>T , CM000669.1:g.30651798C>T	GRCh37
NC_000007.12:g.30618323C>T	NCBI36
NG_007942.1:g.22618C>T , LRG_243:g.22618C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.968C>T MANE Select	ENSP00000373918.3:p.Ala323Val
ENST00000444666.6:c.968C>T	ENSP00000415447.2:p.Ala323Val
ENST00000470392.2:n.1058C>T
ENST00000478124.6:n.1031C>T
ENST00000485784.2:n.1047C>T
ENST00000674616.1:c.*682C>T	ENSP00000502408.1:n.*682C>T
ENST00000674643.1:c.968C>T	ENSP00000501636.1:p.Ala323Val
ENST00000674734.1:n.1464C>T
ENST00000674737.1:c.*306C>T	ENSP00000502464.1:n.*306C>T
ENST00000674807.1:c.968C>T	ENSP00000502814.1:p.Ala323Val
ENST00000674815.1:c.599C>T	ENSP00000502799.1:p.Ala200Val
ENST00000674851.1:c.599C>T	ENSP00000502451.1:p.Ala200Val
ENST00000674969.1:n.2841C>T
ENST00000675051.1:c.767C>T	ENSP00000502296.1:p.Ala256Val
ENST00000675529.1:c.*838C>T	ENSP00000501655.1:n.*838C>T
ENST00000675587.1:n.984C>T
ENST00000675651.1:c.968C>T	ENSP00000502513.1:p.Ala323Val
ENST00000675693.1:c.800C>T	ENSP00000502174.1:p.Ala267Val
ENST00000675810.1:c.866C>T	ENSP00000502743.1:p.Ala289Val
ENST00000675859.1:c.968C>T	ENSP00000502033.1:p.Ala323Val
ENST00000675863.1:n.976C>T
ENST00000675886.1:n.7008C>T
ENST00000676088.1:c.*910C>T	ENSP00000501884.1:n.*910C>T
ENST00000676140.1:c.968C>T	ENSP00000502571.1:p.Ala323Val
ENST00000676164.1:c.*419C>T	ENSP00000501986.1:n.*419C>T
ENST00000676210.1:c.*257C>T	ENSP00000502373.1:n.*257C>T
ENST00000676259.1:c.*400C>T	ENSP00000501980.1:n.*400C>T
ENST00000676403.1:c.968C>T	ENSP00000502681.1:p.Ala323Val
ENST00000389266.7:c.968C>T	ENSP00000373918.3:p.Ala323Val
ENST00000478124.5:n.1006C>T
NM_001316772.1:c.806C>T	NP_001303701.1:p.Ala269Val
NM_002047.2:c.968C>T , LRG_243t1:c.968C>T	NP_002038.2:p.Ala323Val
NM_002047.3:c.968C>T	NP_002038.2:p.Ala323Val
XM_006715686.1:c.599C>T	XP_006715749.1:p.Ala200Val
XM_006715686.2:c.599C>T	XP_006715749.1:p.Ala200Val
NM_002047.4:c.968C>T MANE Select	NP_002038.2:p.Ala323Val