Canonical Allele Identifier: CA156050452

Gene: GARS1

Linked Data

• ClinVar Variation Id: 681750
• ClinVar RCV Id: RCV000841708
• dbSNP Id: rs10229836
• gnomAD v2: 7-30652090-C-T
• gnomAD v3: 7-30612474-C-T
• gnomAD v4: 7-30612474-C-T
• MyVariant Identifiers: chr7:g.30652090C>T (hg19) ; chr7:g.30612474C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612474C>T , CM000669.2:g.30612474C>T	GRCh38
NC_000007.13:g.30652090C>T , CM000669.1:g.30652090C>T	GRCh37
NC_000007.12:g.30618615C>T	NCBI36
NG_007942.1:g.22910C>T , LRG_243:g.22910C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1031+229C>T MANE Select	ENSP00000373918.3:n.1031+229C>T
ENST00000444666.6:c.1031+229C>T	ENSP00000415447.2:n.1031+229C>T
ENST00000470392.2:n.1121+229C>T
ENST00000478124.6:n.1094+229C>T
ENST00000485784.2:n.1110+229C>T
ENST00000674616.1:c.*745+229C>T	ENSP00000502408.1:n.*745+229C>T
ENST00000674643.1:c.1031+229C>T	ENSP00000501636.1:n.1031+229C>T
ENST00000674734.1:n.1527+229C>T
ENST00000674737.1:c.*369+229C>T	ENSP00000502464.1:n.*369+229C>T
ENST00000674807.1:c.1031+229C>T	ENSP00000502814.1:n.1031+229C>T
ENST00000674815.1:c.662+229C>T	ENSP00000502799.1:n.662+229C>T
ENST00000674851.1:c.662+229C>T	ENSP00000502451.1:n.662+229C>T
ENST00000674969.1:n.2904+229C>T
ENST00000675051.1:c.830+229C>T	ENSP00000502296.1:n.830+229C>T
ENST00000675529.1:c.*901+229C>T	ENSP00000501655.1:n.*901+229C>T
ENST00000675587.1:n.1047+229C>T
ENST00000675651.1:c.1031+229C>T	ENSP00000502513.1:n.1031+229C>T
ENST00000675693.1:c.863+229C>T	ENSP00000502174.1:n.863+229C>T
ENST00000675810.1:c.929+229C>T	ENSP00000502743.1:n.929+229C>T
ENST00000675859.1:c.1031+229C>T	ENSP00000502033.1:n.1031+229C>T
ENST00000675863.1:n.1039+229C>T
ENST00000675886.1:n.7071+229C>T
ENST00000676088.1:c.*973+229C>T	ENSP00000501884.1:n.*973+229C>T
ENST00000676140.1:c.1031+229C>T	ENSP00000502571.1:n.1031+229C>T
ENST00000676164.1:c.*482+229C>T	ENSP00000501986.1:n.*482+229C>T
ENST00000676210.1:c.*320+229C>T	ENSP00000502373.1:n.*320+229C>T
ENST00000676259.1:c.*463+229C>T	ENSP00000501980.1:n.*463+229C>T
ENST00000676403.1:c.1031+229C>T	ENSP00000502681.1:n.1031+229C>T
ENST00000389266.7:c.1031+229C>T	ENSP00000373918.3:n.1031+229C>T
ENST00000478124.5:n.1069+229C>T
NM_001316772.1:c.869+229C>T	NP_001303701.1:n.869+229C>T
NM_002047.2:c.1031+229C>T , LRG_243t1:c.1031+229C>T	NP_002038.2:n.1031+229C>T
NM_002047.3:c.1031+229C>T	NP_002038.2:n.1031+229C>T
XM_006715686.1:c.662+229C>T	XP_006715749.1:n.662+229C>T
XM_006715686.2:c.662+229C>T	XP_006715749.1:n.662+229C>T
NM_002047.4:c.1031+229C>T MANE Select	NP_002038.2:n.1031+229C>T