Canonical Allele Identifier: CA4205819

Gene: GARS1

Linked Data

• ClinVar Variation Id: 360005
• ClinVar RCV Id: RCV000393447 ; RCV000356639 ; RCV000544393 ; RCV000444686 ; RCV001095230 ; RCV001174144
• dbSNP Id: rs765478968
• ExAC: 7:30649229 C / T
• gnomAD v2: 7-30649229-C-T
• gnomAD v3: 7-30609613-C-T
• gnomAD v4: 7-30609613-C-T
• MyVariant Identifiers: chr7:g.30649229C>T (hg19) ; chr7:g.30609613C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609613C>T , CM000669.2:g.30609613C>T	GRCh38
NC_000007.13:g.30649229C>T , CM000669.1:g.30649229C>T	GRCh37
NC_000007.12:g.30615754C>T	NCBI36
NG_007942.1:g.20049C>T , LRG_243:g.20049C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.764C>T MANE Select	ENSP00000373918.3:p.Ala255Val
ENST00000444666.6:c.764C>T	ENSP00000415447.2:p.Ala255Val
ENST00000470392.2:n.854C>T
ENST00000478124.6:n.827C>T
ENST00000485784.2:n.843C>T
ENST00000674616.1:c.*478C>T	ENSP00000502408.1:n.*478C>T
ENST00000674643.1:c.764C>T	ENSP00000501636.1:p.Ala255Val
ENST00000674734.1:n.1260C>T
ENST00000674737.1:c.*102C>T	ENSP00000502464.1:n.*102C>T
ENST00000674807.1:c.764C>T	ENSP00000502814.1:p.Ala255Val
ENST00000674815.1:c.395C>T	ENSP00000502799.1:p.Ala132Val
ENST00000674851.1:c.395C>T	ENSP00000502451.1:p.Ala132Val
ENST00000674969.1:n.2637C>T
ENST00000675051.1:c.563C>T	ENSP00000502296.1:p.Ala188Val
ENST00000675529.1:c.*634C>T	ENSP00000501655.1:n.*634C>T
ENST00000675587.1:n.780C>T
ENST00000675651.1:c.764C>T	ENSP00000502513.1:p.Ala255Val
ENST00000675693.1:c.596C>T	ENSP00000502174.1:p.Ala199Val
ENST00000675810.1:c.662C>T	ENSP00000502743.1:p.Ala221Val
ENST00000675859.1:c.764C>T	ENSP00000502033.1:p.Ala255Val
ENST00000675863.1:n.772C>T
ENST00000675886.1:n.6804C>T
ENST00000676088.1:c.*706C>T	ENSP00000501884.1:n.*706C>T
ENST00000676140.1:c.764C>T	ENSP00000502571.1:p.Ala255Val
ENST00000676164.1:c.*215C>T	ENSP00000501986.1:n.*215C>T
ENST00000676210.1:c.*53C>T	ENSP00000502373.1:n.*53C>T
ENST00000676259.1:c.*196C>T	ENSP00000501980.1:n.*196C>T
ENST00000676403.1:c.764C>T	ENSP00000502681.1:p.Ala255Val
ENST00000389266.7:c.764C>T	ENSP00000373918.3:p.Ala255Val
ENST00000478124.5:n.802C>T
NM_001316772.1:c.602C>T	NP_001303701.1:p.Ala201Val
NM_002047.2:c.764C>T , LRG_243t1:c.764C>T	NP_002038.2:p.Ala255Val
NM_002047.3:c.764C>T	NP_002038.2:p.Ala255Val
XM_006715686.1:c.395C>T	XP_006715749.1:p.Ala132Val
XM_006715686.2:c.395C>T	XP_006715749.1:p.Ala132Val
NM_002047.4:c.764C>T MANE Select	NP_002038.2:p.Ala255Val