Canonical Allele Identifier: CA4205853

Gene: GARS1

Linked Data

• ClinVar Variation Id: 2108556
• ClinVar RCV Id: RCV003034231
• dbSNP Id: rs747874509
• ExAC: 7:30651715 C / T
• gnomAD v2: 7-30651715-C-T
• gnomAD v4: 7-30612099-C-T
• MyVariant Identifiers: chr7:g.30651715C>T (hg19) ; chr7:g.30612099C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612099C>T , CM000669.2:g.30612099C>T	GRCh38
NC_000007.13:g.30651715C>T , CM000669.1:g.30651715C>T	GRCh37
NC_000007.12:g.30618240C>T	NCBI36
NG_007942.1:g.22535C>T , LRG_243:g.22535C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389266.8:c.885C>T MANE Select	ENSP00000373918.3:p.Tyr295=
ENST00000444666.6:c.885C>T	ENSP00000415447.2:p.Tyr295=
ENST00000470392.2:n.975C>T
ENST00000478124.6:n.948C>T
ENST00000485784.2:n.964C>T
ENST00000674616.1:c.*599C>T	ENSP00000502408.1:n.*599C>T
ENST00000674643.1:c.885C>T	ENSP00000501636.1:p.Tyr295=
ENST00000674734.1:n.1381C>T
ENST00000674737.1:c.*223C>T	ENSP00000502464.1:n.*223C>T
ENST00000674807.1:c.885C>T	ENSP00000502814.1:p.Tyr295=
ENST00000674815.1:c.516C>T	ENSP00000502799.1:p.Tyr172=
ENST00000674851.1:c.516C>T	ENSP00000502451.1:p.Tyr172=
ENST00000674969.1:n.2758C>T
ENST00000675051.1:c.684C>T	ENSP00000502296.1:p.Tyr228=
ENST00000675529.1:c.*755C>T	ENSP00000501655.1:n.*755C>T
ENST00000675587.1:n.901C>T
ENST00000675651.1:c.885C>T	ENSP00000502513.1:p.Tyr295=
ENST00000675693.1:c.717C>T	ENSP00000502174.1:p.Tyr239=
ENST00000675810.1:c.783C>T	ENSP00000502743.1:p.Tyr261=
ENST00000675859.1:c.885C>T	ENSP00000502033.1:p.Tyr295=
ENST00000675863.1:n.893C>T
ENST00000675886.1:n.6925C>T
ENST00000676088.1:c.*827C>T	ENSP00000501884.1:n.*827C>T
ENST00000676140.1:c.885C>T	ENSP00000502571.1:p.Tyr295=
ENST00000676164.1:c.*336C>T	ENSP00000501986.1:n.*336C>T
ENST00000676210.1:c.*174C>T	ENSP00000502373.1:n.*174C>T
ENST00000676259.1:c.*317C>T	ENSP00000501980.1:n.*317C>T
ENST00000676403.1:c.885C>T	ENSP00000502681.1:p.Tyr295=
ENST00000389266.7:c.885C>T	ENSP00000373918.3:p.Tyr295=
ENST00000478124.5:n.923C>T
NM_001316772.1:c.723C>T	NP_001303701.1:p.Tyr241=
NM_002047.2:c.885C>T , LRG_243t1:c.885C>T	NP_002038.2:p.Tyr295=
NM_002047.3:c.885C>T	NP_002038.2:p.Tyr295=
XM_006715686.1:c.516C>T	XP_006715749.1:p.Tyr172=
XM_006715686.2:c.516C>T	XP_006715749.1:p.Tyr172=
NM_002047.4:c.885C>T MANE Select	NP_002038.2:p.Tyr295=