Canonical Allele Identifier: CA367124498

Gene: GARS1

Linked Data

• dbSNP Id: rs1486676467
• gnomAD v2: 7-30649288-C-G
• gnomAD v4: 7-30609672-C-G
• MyVariant Identifiers: chr7:g.30649288C>G (hg19) ; chr7:g.30609672C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609672C>G , CM000669.2:g.30609672C>G	GRCh38
NC_000007.13:g.30649288C>G , CM000669.1:g.30649288C>G	GRCh37
NC_000007.12:g.30615813C>G	NCBI36
NG_007942.1:g.20108C>G , LRG_243:g.20108C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.823C>G MANE Select	ENSP00000373918.3:p.Pro275Ala
ENST00000444666.6:c.823C>G	ENSP00000415447.2:p.Pro275Ala
ENST00000470392.2:n.913C>G
ENST00000478124.6:n.886C>G
ENST00000485784.2:n.902C>G
ENST00000674616.1:c.*537C>G	ENSP00000502408.1:n.*537C>G
ENST00000674643.1:c.823C>G	ENSP00000501636.1:p.Pro275Ala
ENST00000674734.1:n.1319C>G
ENST00000674737.1:c.*161C>G	ENSP00000502464.1:n.*161C>G
ENST00000674807.1:c.823C>G	ENSP00000502814.1:p.Pro275Ala
ENST00000674815.1:c.454C>G	ENSP00000502799.1:p.Pro152Ala
ENST00000674851.1:c.454C>G	ENSP00000502451.1:p.Pro152Ala
ENST00000674969.1:n.2696C>G
ENST00000675051.1:c.622C>G	ENSP00000502296.1:p.Pro208Ala
ENST00000675529.1:c.*693C>G	ENSP00000501655.1:n.*693C>G
ENST00000675587.1:n.839C>G
ENST00000675651.1:c.823C>G	ENSP00000502513.1:p.Pro275Ala
ENST00000675693.1:c.655C>G	ENSP00000502174.1:p.Pro219Ala
ENST00000675810.1:c.721C>G	ENSP00000502743.1:p.Pro241Ala
ENST00000675859.1:c.823C>G	ENSP00000502033.1:p.Pro275Ala
ENST00000675863.1:n.831C>G
ENST00000675886.1:n.6863C>G
ENST00000676088.1:c.*765C>G	ENSP00000501884.1:n.*765C>G
ENST00000676140.1:c.823C>G	ENSP00000502571.1:p.Pro275Ala
ENST00000676164.1:c.*274C>G	ENSP00000501986.1:n.*274C>G
ENST00000676210.1:c.*112C>G	ENSP00000502373.1:n.*112C>G
ENST00000676259.1:c.*255C>G	ENSP00000501980.1:n.*255C>G
ENST00000676403.1:c.823C>G	ENSP00000502681.1:p.Pro275Ala
ENST00000389266.7:c.823C>G	ENSP00000373918.3:p.Pro275Ala
ENST00000478124.5:n.861C>G
NM_001316772.1:c.661C>G	NP_001303701.1:p.Pro221Ala
NM_002047.2:c.823C>G , LRG_243t1:c.823C>G	NP_002038.2:p.Pro275Ala
NM_002047.3:c.823C>G	NP_002038.2:p.Pro275Ala
XM_006715686.1:c.454C>G	XP_006715749.1:p.Pro152Ala
XM_006715686.2:c.454C>G	XP_006715749.1:p.Pro152Ala
NM_002047.4:c.823C>G MANE Select	NP_002038.2:p.Pro275Ala