Canonical Allele Identifier: CA454253326

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30661017T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30621401T>C , CM000669.2:g.30621401T>C	GRCh38
NC_000007.13:g.30661017T>C , CM000669.1:g.30661017T>C	GRCh37
NC_000007.12:g.30627542T>C	NCBI36
NG_007942.1:g.31837T>C , LRG_243:g.31837T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1368T>C MANE Select	ENSP00000373918.3:p.Ile456=
ENST00000444666.6:c.1368T>C	ENSP00000415447.2:p.Ile456=
ENST00000470392.2:n.1458T>C
ENST00000478124.6:n.1431T>C
ENST00000485784.2:n.1447T>C
ENST00000674616.1:c.*1082T>C	ENSP00000502408.1:n.*1082T>C
ENST00000674643.1:c.*468T>C	ENSP00000501636.1:n.*468T>C
ENST00000674734.1:n.1864T>C
ENST00000674737.1:c.*706T>C	ENSP00000502464.1:n.*706T>C
ENST00000674807.1:c.1368T>C	ENSP00000502814.1:p.Ile456=
ENST00000674815.1:c.999T>C	ENSP00000502799.1:p.Ile333=
ENST00000674851.1:c.999T>C	ENSP00000502451.1:p.Ile333=
ENST00000674969.1:n.3241T>C
ENST00000675051.1:c.1167T>C	ENSP00000502296.1:p.Ile389=
ENST00000675529.1:c.*1238T>C	ENSP00000501655.1:n.*1238T>C
ENST00000675587.1:n.1384T>C
ENST00000675651.1:c.1368T>C	ENSP00000502513.1:p.Ile456=
ENST00000675693.1:c.1200T>C	ENSP00000502174.1:p.Ile400=
ENST00000675810.1:c.1266T>C	ENSP00000502743.1:p.Ile422=
ENST00000675859.1:c.1368T>C	ENSP00000502033.1:p.Ile456=
ENST00000675863.1:n.1376T>C
ENST00000675886.1:n.7408T>C
ENST00000676088.1:c.*1310T>C	ENSP00000501884.1:n.*1310T>C
ENST00000676140.1:c.*313T>C	ENSP00000502571.1:n.*313T>C
ENST00000676164.1:c.*819T>C	ENSP00000501986.1:n.*819T>C
ENST00000676210.1:c.*657T>C	ENSP00000502373.1:n.*657T>C
ENST00000676259.1:c.*800T>C	ENSP00000501980.1:n.*800T>C
ENST00000676403.1:c.1368T>C	ENSP00000502681.1:p.Ile456=
ENST00000389266.7:c.1368T>C	ENSP00000373918.3:p.Ile456=
ENST00000478124.5:n.1406T>C
ENST00000484093.1:n.367T>C
NM_001316772.1:c.1206T>C	NP_001303701.1:p.Ile402=
NM_002047.2:c.1368T>C , LRG_243t1:c.1368T>C	NP_002038.2:p.Ile456=
NM_002047.3:c.1368T>C	NP_002038.2:p.Ile456=
XM_006715686.1:c.999T>C	XP_006715749.1:p.Ile333=
XM_006715686.2:c.999T>C	XP_006715749.1:p.Ile333=
NM_002047.4:c.1368T>C MANE Select	NP_002038.2:p.Ile456=