Canonical Allele Identifier: CA367125551

Gene: GARS1

Linked Data

• gnomAD v4: 7-30612224-G-T
• MyVariant Identifiers: chr7:g.30651840G>T (hg19) ; chr7:g.30612224G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612224G>T , CM000669.2:g.30612224G>T	GRCh38
NC_000007.13:g.30651840G>T , CM000669.1:g.30651840G>T	GRCh37
NC_000007.12:g.30618365G>T	NCBI36
NG_007942.1:g.22660G>T , LRG_243:g.22660G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1010G>T MANE Select	ENSP00000373918.3:p.Arg337Leu
ENST00000444666.6:c.1010G>T	ENSP00000415447.2:p.Arg337Leu
ENST00000470392.2:n.1100G>T
ENST00000478124.6:n.1073G>T
ENST00000485784.2:n.1089G>T
ENST00000674616.1:c.*724G>T	ENSP00000502408.1:n.*724G>T
ENST00000674643.1:c.1010G>T	ENSP00000501636.1:p.Arg337Leu
ENST00000674734.1:n.1506G>T
ENST00000674737.1:c.*348G>T	ENSP00000502464.1:n.*348G>T
ENST00000674807.1:c.1010G>T	ENSP00000502814.1:p.Arg337Leu
ENST00000674815.1:c.641G>T	ENSP00000502799.1:p.Arg214Leu
ENST00000674851.1:c.641G>T	ENSP00000502451.1:p.Arg214Leu
ENST00000674969.1:n.2883G>T
ENST00000675051.1:c.809G>T	ENSP00000502296.1:p.Arg270Leu
ENST00000675529.1:c.*880G>T	ENSP00000501655.1:n.*880G>T
ENST00000675587.1:n.1026G>T
ENST00000675651.1:c.1010G>T	ENSP00000502513.1:p.Arg337Leu
ENST00000675693.1:c.842G>T	ENSP00000502174.1:p.Arg281Leu
ENST00000675810.1:c.908G>T	ENSP00000502743.1:p.Arg303Leu
ENST00000675859.1:c.1010G>T	ENSP00000502033.1:p.Arg337Leu
ENST00000675863.1:n.1018G>T
ENST00000675886.1:n.7050G>T
ENST00000676088.1:c.*952G>T	ENSP00000501884.1:n.*952G>T
ENST00000676140.1:c.1010G>T	ENSP00000502571.1:p.Arg337Leu
ENST00000676164.1:c.*461G>T	ENSP00000501986.1:n.*461G>T
ENST00000676210.1:c.*299G>T	ENSP00000502373.1:n.*299G>T
ENST00000676259.1:c.*442G>T	ENSP00000501980.1:n.*442G>T
ENST00000676403.1:c.1010G>T	ENSP00000502681.1:p.Arg337Leu
ENST00000389266.7:c.1010G>T	ENSP00000373918.3:p.Arg337Leu
ENST00000478124.5:n.1048G>T
NM_001316772.1:c.848G>T	NP_001303701.1:p.Arg283Leu
NM_002047.2:c.1010G>T , LRG_243t1:c.1010G>T	NP_002038.2:p.Arg337Leu
NM_002047.3:c.1010G>T	NP_002038.2:p.Arg337Leu
XM_006715686.1:c.641G>T	XP_006715749.1:p.Arg214Leu
XM_006715686.2:c.641G>T	XP_006715749.1:p.Arg214Leu
NM_002047.4:c.1010G>T MANE Select	NP_002038.2:p.Arg337Leu