Canonical Allele Identifier: CA367127936

Gene: GARS1

Linked Data

• dbSNP Id: rs1783003299
• gnomAD v3: 7-30621398-G-C
• gnomAD v4: 7-30621398-G-C
• MyVariant Identifiers: chr7:g.30661014G>C (hg19) ; chr7:g.30621398G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30621398G>C , CM000669.2:g.30621398G>C	GRCh38
NC_000007.13:g.30661014G>C , CM000669.1:g.30661014G>C	GRCh37
NC_000007.12:g.30627539G>C	NCBI36
NG_007942.1:g.31834G>C , LRG_243:g.31834G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1365G>C MANE Select	ENSP00000373918.3:p.Trp455Cys
ENST00000444666.6:c.1365G>C	ENSP00000415447.2:p.Trp455Cys
ENST00000470392.2:n.1455G>C
ENST00000478124.6:n.1428G>C
ENST00000485784.2:n.1444G>C
ENST00000674616.1:c.*1079G>C	ENSP00000502408.1:n.*1079G>C
ENST00000674643.1:c.*465G>C	ENSP00000501636.1:n.*465G>C
ENST00000674734.1:n.1861G>C
ENST00000674737.1:c.*703G>C	ENSP00000502464.1:n.*703G>C
ENST00000674807.1:c.1365G>C	ENSP00000502814.1:p.Trp455Cys
ENST00000674815.1:c.996G>C	ENSP00000502799.1:p.Trp332Cys
ENST00000674851.1:c.996G>C	ENSP00000502451.1:p.Trp332Cys
ENST00000674969.1:n.3238G>C
ENST00000675051.1:c.1164G>C	ENSP00000502296.1:p.Trp388Cys
ENST00000675529.1:c.*1235G>C	ENSP00000501655.1:n.*1235G>C
ENST00000675587.1:n.1381G>C
ENST00000675651.1:c.1365G>C	ENSP00000502513.1:p.Trp455Cys
ENST00000675693.1:c.1197G>C	ENSP00000502174.1:p.Trp399Cys
ENST00000675810.1:c.1263G>C	ENSP00000502743.1:p.Trp421Cys
ENST00000675859.1:c.1365G>C	ENSP00000502033.1:p.Trp455Cys
ENST00000675863.1:n.1373G>C
ENST00000675886.1:n.7405G>C
ENST00000676088.1:c.*1307G>C	ENSP00000501884.1:n.*1307G>C
ENST00000676140.1:c.*310G>C	ENSP00000502571.1:n.*310G>C
ENST00000676164.1:c.*816G>C	ENSP00000501986.1:n.*816G>C
ENST00000676210.1:c.*654G>C	ENSP00000502373.1:n.*654G>C
ENST00000676259.1:c.*797G>C	ENSP00000501980.1:n.*797G>C
ENST00000676403.1:c.1365G>C	ENSP00000502681.1:p.Trp455Cys
ENST00000389266.7:c.1365G>C	ENSP00000373918.3:p.Trp455Cys
ENST00000478124.5:n.1403G>C
ENST00000484093.1:n.364G>C
NM_001316772.1:c.1203G>C	NP_001303701.1:p.Trp401Cys
NM_002047.2:c.1365G>C , LRG_243t1:c.1365G>C	NP_002038.2:p.Trp455Cys
NM_002047.3:c.1365G>C	NP_002038.2:p.Trp455Cys
XM_006715686.1:c.996G>C	XP_006715749.1:p.Trp332Cys
XM_006715686.2:c.996G>C	XP_006715749.1:p.Trp332Cys
NM_002047.4:c.1365G>C MANE Select	NP_002038.2:p.Trp455Cys