Canonical Allele Identifier: CA367124840

Gene: GARS1

Linked Data

• gnomAD v4: 7-30612106-C-G
• MyVariant Identifiers: chr7:g.30651722C>G (hg19) ; chr7:g.30612106C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612106C>G , CM000669.2:g.30612106C>G	GRCh38
NC_000007.13:g.30651722C>G , CM000669.1:g.30651722C>G	GRCh37
NC_000007.12:g.30618247C>G	NCBI36
NG_007942.1:g.22542C>G , LRG_243:g.22542C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.892C>G MANE Select	ENSP00000373918.3:p.Pro298Ala
ENST00000444666.6:c.892C>G	ENSP00000415447.2:p.Pro298Ala
ENST00000470392.2:n.982C>G
ENST00000478124.6:n.955C>G
ENST00000485784.2:n.971C>G
ENST00000674616.1:c.*606C>G	ENSP00000502408.1:n.*606C>G
ENST00000674643.1:c.892C>G	ENSP00000501636.1:p.Pro298Ala
ENST00000674734.1:n.1388C>G
ENST00000674737.1:c.*230C>G	ENSP00000502464.1:n.*230C>G
ENST00000674807.1:c.892C>G	ENSP00000502814.1:p.Pro298Ala
ENST00000674815.1:c.523C>G	ENSP00000502799.1:p.Pro175Ala
ENST00000674851.1:c.523C>G	ENSP00000502451.1:p.Pro175Ala
ENST00000674969.1:n.2765C>G
ENST00000675051.1:c.691C>G	ENSP00000502296.1:p.Pro231Ala
ENST00000675529.1:c.*762C>G	ENSP00000501655.1:n.*762C>G
ENST00000675587.1:n.908C>G
ENST00000675651.1:c.892C>G	ENSP00000502513.1:p.Pro298Ala
ENST00000675693.1:c.724C>G	ENSP00000502174.1:p.Pro242Ala
ENST00000675810.1:c.790C>G	ENSP00000502743.1:p.Pro264Ala
ENST00000675859.1:c.892C>G	ENSP00000502033.1:p.Pro298Ala
ENST00000675863.1:n.900C>G
ENST00000675886.1:n.6932C>G
ENST00000676088.1:c.*834C>G	ENSP00000501884.1:n.*834C>G
ENST00000676140.1:c.892C>G	ENSP00000502571.1:p.Pro298Ala
ENST00000676164.1:c.*343C>G	ENSP00000501986.1:n.*343C>G
ENST00000676210.1:c.*181C>G	ENSP00000502373.1:n.*181C>G
ENST00000676259.1:c.*324C>G	ENSP00000501980.1:n.*324C>G
ENST00000676403.1:c.892C>G	ENSP00000502681.1:p.Pro298Ala
ENST00000389266.7:c.892C>G	ENSP00000373918.3:p.Pro298Ala
ENST00000478124.5:n.930C>G
NM_001316772.1:c.730C>G	NP_001303701.1:p.Pro244Ala
NM_002047.2:c.892C>G , LRG_243t1:c.892C>G	NP_002038.2:p.Pro298Ala
NM_002047.3:c.892C>G	NP_002038.2:p.Pro298Ala
XM_006715686.1:c.523C>G	XP_006715749.1:p.Pro175Ala
XM_006715686.2:c.523C>G	XP_006715749.1:p.Pro175Ala
NM_002047.4:c.892C>G MANE Select	NP_002038.2:p.Pro298Ala