Canonical Allele Identifier: CA367124659

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30649325G>C (hg19) ; chr7:g.30609709G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609709G>C , CM000669.2:g.30609709G>C	GRCh38
NC_000007.13:g.30649325G>C , CM000669.1:g.30649325G>C	GRCh37
NC_000007.12:g.30615850G>C	NCBI36
NG_007942.1:g.20145G>C , LRG_243:g.20145G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.860G>C MANE Select	ENSP00000373918.3:p.Gly287Ala
ENST00000444666.6:c.860G>C	ENSP00000415447.2:p.Gly287Ala
ENST00000470392.2:n.950G>C
ENST00000478124.6:n.923G>C
ENST00000485784.2:n.939G>C
ENST00000674616.1:c.*574G>C	ENSP00000502408.1:n.*574G>C
ENST00000674643.1:c.860G>C	ENSP00000501636.1:p.Gly287Ala
ENST00000674734.1:n.1356G>C
ENST00000674737.1:c.*198G>C	ENSP00000502464.1:n.*198G>C
ENST00000674807.1:c.860G>C	ENSP00000502814.1:p.Gly287Ala
ENST00000674815.1:c.491G>C	ENSP00000502799.1:p.Gly164Ala
ENST00000674851.1:c.491G>C	ENSP00000502451.1:p.Gly164Ala
ENST00000674969.1:n.2733G>C
ENST00000675051.1:c.659G>C	ENSP00000502296.1:p.Gly220Ala
ENST00000675529.1:c.*730G>C	ENSP00000501655.1:n.*730G>C
ENST00000675587.1:n.876G>C
ENST00000675651.1:c.860G>C	ENSP00000502513.1:p.Gly287Ala
ENST00000675693.1:c.692G>C	ENSP00000502174.1:p.Gly231Ala
ENST00000675810.1:c.758G>C	ENSP00000502743.1:p.Gly253Ala
ENST00000675859.1:c.860G>C	ENSP00000502033.1:p.Gly287Ala
ENST00000675863.1:n.868G>C
ENST00000675886.1:n.6900G>C
ENST00000676088.1:c.*802G>C	ENSP00000501884.1:n.*802G>C
ENST00000676140.1:c.860G>C	ENSP00000502571.1:p.Gly287Ala
ENST00000676164.1:c.*311G>C	ENSP00000501986.1:n.*311G>C
ENST00000676210.1:c.*149G>C	ENSP00000502373.1:n.*149G>C
ENST00000676259.1:c.*292G>C	ENSP00000501980.1:n.*292G>C
ENST00000676403.1:c.860G>C	ENSP00000502681.1:p.Gly287Ala
ENST00000389266.7:c.860G>C	ENSP00000373918.3:p.Gly287Ala
ENST00000478124.5:n.898G>C
NM_001316772.1:c.698G>C	NP_001303701.1:p.Gly233Ala
NM_002047.2:c.860G>C , LRG_243t1:c.860G>C	NP_002038.2:p.Gly287Ala
NM_002047.3:c.860G>C	NP_002038.2:p.Gly287Ala
XM_006715686.1:c.491G>C	XP_006715749.1:p.Gly164Ala
XM_006715686.2:c.491G>C	XP_006715749.1:p.Gly164Ala
NM_002047.4:c.860G>C MANE Select	NP_002038.2:p.Gly287Ala