Canonical Allele Identifier: CA367123989

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30649208A>T (hg19) ; chr7:g.30609592A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609592A>T , CM000669.2:g.30609592A>T	GRCh38
NC_000007.13:g.30649208A>T , CM000669.1:g.30649208A>T	GRCh37
NC_000007.12:g.30615733A>T	NCBI36
NG_007942.1:g.20028A>T , LRG_243:g.20028A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.743A>T MANE Select	ENSP00000373918.3:p.Asn248Ile
ENST00000444666.6:c.743A>T	ENSP00000415447.2:p.Asn248Ile
ENST00000470392.2:n.833A>T
ENST00000478124.6:n.806A>T
ENST00000485784.2:n.822A>T
ENST00000674616.1:c.*457A>T	ENSP00000502408.1:n.*457A>T
ENST00000674643.1:c.743A>T	ENSP00000501636.1:p.Asn248Ile
ENST00000674734.1:n.1239A>T
ENST00000674737.1:c.*81A>T	ENSP00000502464.1:n.*81A>T
ENST00000674807.1:c.743A>T	ENSP00000502814.1:p.Asn248Ile
ENST00000674815.1:c.374A>T	ENSP00000502799.1:p.Asn125Ile
ENST00000674851.1:c.374A>T	ENSP00000502451.1:p.Asn125Ile
ENST00000674969.1:n.2616A>T
ENST00000675051.1:c.542A>T	ENSP00000502296.1:p.Asn181Ile
ENST00000675529.1:c.*613A>T	ENSP00000501655.1:n.*613A>T
ENST00000675587.1:n.759A>T
ENST00000675651.1:c.743A>T	ENSP00000502513.1:p.Asn248Ile
ENST00000675693.1:c.575A>T	ENSP00000502174.1:p.Asn192Ile
ENST00000675810.1:c.641A>T	ENSP00000502743.1:p.Asn214Ile
ENST00000675859.1:c.743A>T	ENSP00000502033.1:p.Asn248Ile
ENST00000675863.1:n.751A>T
ENST00000675886.1:n.6783A>T
ENST00000676088.1:c.*685A>T	ENSP00000501884.1:n.*685A>T
ENST00000676140.1:c.743A>T	ENSP00000502571.1:p.Asn248Ile
ENST00000676164.1:c.*194A>T	ENSP00000501986.1:n.*194A>T
ENST00000676210.1:c.*32A>T	ENSP00000502373.1:n.*32A>T
ENST00000676259.1:c.*175A>T	ENSP00000501980.1:n.*175A>T
ENST00000676403.1:c.743A>T	ENSP00000502681.1:p.Asn248Ile
ENST00000389266.7:c.743A>T	ENSP00000373918.3:p.Asn248Ile
ENST00000478124.5:n.781A>T
NM_001316772.1:c.581A>T	NP_001303701.1:p.Asn194Ile
NM_002047.2:c.743A>T , LRG_243t1:c.743A>T	NP_002038.2:p.Asn248Ile
NM_002047.3:c.743A>T	NP_002038.2:p.Asn248Ile
XM_006715686.1:c.374A>T	XP_006715749.1:p.Asn125Ile
XM_006715686.2:c.374A>T	XP_006715749.1:p.Asn125Ile
NM_002047.4:c.743A>T MANE Select	NP_002038.2:p.Asn248Ile