Canonical Allele Identifier: CA156050426

Gene: GARS1

Linked Data

• dbSNP Id: rs943789851
• gnomAD v3: 7-30612410-C-G
• gnomAD v4: 7-30612410-C-G
• MyVariant Identifiers: chr7:g.30652026C>G (hg19) ; chr7:g.30612410C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612410C>G , CM000669.2:g.30612410C>G	GRCh38
NC_000007.13:g.30652026C>G , CM000669.1:g.30652026C>G	GRCh37
NC_000007.12:g.30618551C>G	NCBI36
NG_007942.1:g.22846C>G , LRG_243:g.22846C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1031+165C>G MANE Select	ENSP00000373918.3:n.1031+165C>G
ENST00000444666.6:c.1031+165C>G	ENSP00000415447.2:n.1031+165C>G
ENST00000470392.2:n.1121+165C>G
ENST00000478124.6:n.1094+165C>G
ENST00000485784.2:n.1110+165C>G
ENST00000674616.1:c.*745+165C>G	ENSP00000502408.1:n.*745+165C>G
ENST00000674643.1:c.1031+165C>G	ENSP00000501636.1:n.1031+165C>G
ENST00000674734.1:n.1527+165C>G
ENST00000674737.1:c.*369+165C>G	ENSP00000502464.1:n.*369+165C>G
ENST00000674807.1:c.1031+165C>G	ENSP00000502814.1:n.1031+165C>G
ENST00000674815.1:c.662+165C>G	ENSP00000502799.1:n.662+165C>G
ENST00000674851.1:c.662+165C>G	ENSP00000502451.1:n.662+165C>G
ENST00000674969.1:n.2904+165C>G
ENST00000675051.1:c.830+165C>G	ENSP00000502296.1:n.830+165C>G
ENST00000675529.1:c.*901+165C>G	ENSP00000501655.1:n.*901+165C>G
ENST00000675587.1:n.1047+165C>G
ENST00000675651.1:c.1031+165C>G	ENSP00000502513.1:n.1031+165C>G
ENST00000675693.1:c.863+165C>G	ENSP00000502174.1:n.863+165C>G
ENST00000675810.1:c.929+165C>G	ENSP00000502743.1:n.929+165C>G
ENST00000675859.1:c.1031+165C>G	ENSP00000502033.1:n.1031+165C>G
ENST00000675863.1:n.1039+165C>G
ENST00000675886.1:n.7071+165C>G
ENST00000676088.1:c.*973+165C>G	ENSP00000501884.1:n.*973+165C>G
ENST00000676140.1:c.1031+165C>G	ENSP00000502571.1:n.1031+165C>G
ENST00000676164.1:c.*482+165C>G	ENSP00000501986.1:n.*482+165C>G
ENST00000676210.1:c.*320+165C>G	ENSP00000502373.1:n.*320+165C>G
ENST00000676259.1:c.*463+165C>G	ENSP00000501980.1:n.*463+165C>G
ENST00000676403.1:c.1031+165C>G	ENSP00000502681.1:n.1031+165C>G
ENST00000389266.7:c.1031+165C>G	ENSP00000373918.3:n.1031+165C>G
ENST00000478124.5:n.1069+165C>G
NM_001316772.1:c.869+165C>G	NP_001303701.1:n.869+165C>G
NM_002047.2:c.1031+165C>G , LRG_243t1:c.1031+165C>G	NP_002038.2:n.1031+165C>G
NM_002047.3:c.1031+165C>G	NP_002038.2:n.1031+165C>G
XM_006715686.1:c.662+165C>G	XP_006715749.1:n.662+165C>G
XM_006715686.2:c.662+165C>G	XP_006715749.1:n.662+165C>G
NM_002047.4:c.1031+165C>G MANE Select	NP_002038.2:n.1031+165C>G