Canonical Allele Identifier: CA367124507

Gene: GARS1

Linked Data

• dbSNP Id: rs1186534585
• gnomAD v2: 7-30649291-G-C
• gnomAD v4: 7-30609675-G-C
• MyVariant Identifiers: chr7:g.30649291G>C (hg19) ; chr7:g.30609675G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609675G>C , CM000669.2:g.30609675G>C	GRCh38
NC_000007.13:g.30649291G>C , CM000669.1:g.30649291G>C	GRCh37
NC_000007.12:g.30615816G>C	NCBI36
NG_007942.1:g.20111G>C , LRG_243:g.20111G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.826G>C MANE Select	ENSP00000373918.3:p.Val276Leu
ENST00000444666.6:c.826G>C	ENSP00000415447.2:p.Val276Leu
ENST00000470392.2:n.916G>C
ENST00000478124.6:n.889G>C
ENST00000485784.2:n.905G>C
ENST00000674616.1:c.*540G>C	ENSP00000502408.1:n.*540G>C
ENST00000674643.1:c.826G>C	ENSP00000501636.1:p.Val276Leu
ENST00000674734.1:n.1322G>C
ENST00000674737.1:c.*164G>C	ENSP00000502464.1:n.*164G>C
ENST00000674807.1:c.826G>C	ENSP00000502814.1:p.Val276Leu
ENST00000674815.1:c.457G>C	ENSP00000502799.1:p.Val153Leu
ENST00000674851.1:c.457G>C	ENSP00000502451.1:p.Val153Leu
ENST00000674969.1:n.2699G>C
ENST00000675051.1:c.625G>C	ENSP00000502296.1:p.Val209Leu
ENST00000675529.1:c.*696G>C	ENSP00000501655.1:n.*696G>C
ENST00000675587.1:n.842G>C
ENST00000675651.1:c.826G>C	ENSP00000502513.1:p.Val276Leu
ENST00000675693.1:c.658G>C	ENSP00000502174.1:p.Val220Leu
ENST00000675810.1:c.724G>C	ENSP00000502743.1:p.Val242Leu
ENST00000675859.1:c.826G>C	ENSP00000502033.1:p.Val276Leu
ENST00000675863.1:n.834G>C
ENST00000675886.1:n.6866G>C
ENST00000676088.1:c.*768G>C	ENSP00000501884.1:n.*768G>C
ENST00000676140.1:c.826G>C	ENSP00000502571.1:p.Val276Leu
ENST00000676164.1:c.*277G>C	ENSP00000501986.1:n.*277G>C
ENST00000676210.1:c.*115G>C	ENSP00000502373.1:n.*115G>C
ENST00000676259.1:c.*258G>C	ENSP00000501980.1:n.*258G>C
ENST00000676403.1:c.826G>C	ENSP00000502681.1:p.Val276Leu
ENST00000389266.7:c.826G>C	ENSP00000373918.3:p.Val276Leu
ENST00000478124.5:n.864G>C
NM_001316772.1:c.664G>C	NP_001303701.1:p.Val222Leu
NM_002047.2:c.826G>C , LRG_243t1:c.826G>C	NP_002038.2:p.Val276Leu
NM_002047.3:c.826G>C	NP_002038.2:p.Val276Leu
XM_006715686.1:c.457G>C	XP_006715749.1:p.Val153Leu
XM_006715686.2:c.457G>C	XP_006715749.1:p.Val153Leu
NM_002047.4:c.826G>C MANE Select	NP_002038.2:p.Val276Leu