Canonical Allele Identifier: CA367124226

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30649240G>T (hg19) ; chr7:g.30609624G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609624G>T , CM000669.2:g.30609624G>T	GRCh38
NC_000007.13:g.30649240G>T , CM000669.1:g.30649240G>T	GRCh37
NC_000007.12:g.30615765G>T	NCBI36
NG_007942.1:g.20060G>T , LRG_243:g.20060G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.775G>T MANE Select	ENSP00000373918.3:p.Val259Leu
ENST00000444666.6:c.775G>T	ENSP00000415447.2:p.Val259Leu
ENST00000470392.2:n.865G>T
ENST00000478124.6:n.838G>T
ENST00000485784.2:n.854G>T
ENST00000674616.1:c.*489G>T	ENSP00000502408.1:n.*489G>T
ENST00000674643.1:c.775G>T	ENSP00000501636.1:p.Val259Leu
ENST00000674734.1:n.1271G>T
ENST00000674737.1:c.*113G>T	ENSP00000502464.1:n.*113G>T
ENST00000674807.1:c.775G>T	ENSP00000502814.1:p.Val259Leu
ENST00000674815.1:c.406G>T	ENSP00000502799.1:p.Val136Leu
ENST00000674851.1:c.406G>T	ENSP00000502451.1:p.Val136Leu
ENST00000674969.1:n.2648G>T
ENST00000675051.1:c.574G>T	ENSP00000502296.1:p.Val192Leu
ENST00000675529.1:c.*645G>T	ENSP00000501655.1:n.*645G>T
ENST00000675587.1:n.791G>T
ENST00000675651.1:c.775G>T	ENSP00000502513.1:p.Val259Leu
ENST00000675693.1:c.607G>T	ENSP00000502174.1:p.Val203Leu
ENST00000675810.1:c.673G>T	ENSP00000502743.1:p.Val225Leu
ENST00000675859.1:c.775G>T	ENSP00000502033.1:p.Val259Leu
ENST00000675863.1:n.783G>T
ENST00000675886.1:n.6815G>T
ENST00000676088.1:c.*717G>T	ENSP00000501884.1:n.*717G>T
ENST00000676140.1:c.775G>T	ENSP00000502571.1:p.Val259Leu
ENST00000676164.1:c.*226G>T	ENSP00000501986.1:n.*226G>T
ENST00000676210.1:c.*64G>T	ENSP00000502373.1:n.*64G>T
ENST00000676259.1:c.*207G>T	ENSP00000501980.1:n.*207G>T
ENST00000676403.1:c.775G>T	ENSP00000502681.1:p.Val259Leu
ENST00000389266.7:c.775G>T	ENSP00000373918.3:p.Val259Leu
ENST00000478124.5:n.813G>T
NM_001316772.1:c.613G>T	NP_001303701.1:p.Val205Leu
NM_002047.2:c.775G>T , LRG_243t1:c.775G>T	NP_002038.2:p.Val259Leu
NM_002047.3:c.775G>T	NP_002038.2:p.Val259Leu
XM_006715686.1:c.406G>T	XP_006715749.1:p.Val136Leu
XM_006715686.2:c.406G>T	XP_006715749.1:p.Val136Leu
NM_002047.4:c.775G>T MANE Select	NP_002038.2:p.Val259Leu