Canonical Allele Identifier: CA454246954

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30651785T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612169T>C , CM000669.2:g.30612169T>C	GRCh38
NC_000007.13:g.30651785T>C , CM000669.1:g.30651785T>C	GRCh37
NC_000007.12:g.30618310T>C	NCBI36
NG_007942.1:g.22605T>C , LRG_243:g.22605T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.955T>C MANE Select	ENSP00000373918.3:p.Leu319=
ENST00000444666.6:c.955T>C	ENSP00000415447.2:p.Leu319=
ENST00000470392.2:n.1045T>C
ENST00000478124.6:n.1018T>C
ENST00000485784.2:n.1034T>C
ENST00000674616.1:c.*669T>C	ENSP00000502408.1:n.*669T>C
ENST00000674643.1:c.955T>C	ENSP00000501636.1:p.Leu319=
ENST00000674734.1:n.1451T>C
ENST00000674737.1:c.*293T>C	ENSP00000502464.1:n.*293T>C
ENST00000674807.1:c.955T>C	ENSP00000502814.1:p.Leu319=
ENST00000674815.1:c.586T>C	ENSP00000502799.1:p.Leu196=
ENST00000674851.1:c.586T>C	ENSP00000502451.1:p.Leu196=
ENST00000674969.1:n.2828T>C
ENST00000675051.1:c.754T>C	ENSP00000502296.1:p.Leu252=
ENST00000675529.1:c.*825T>C	ENSP00000501655.1:n.*825T>C
ENST00000675587.1:n.971T>C
ENST00000675651.1:c.955T>C	ENSP00000502513.1:p.Leu319=
ENST00000675693.1:c.787T>C	ENSP00000502174.1:p.Leu263=
ENST00000675810.1:c.853T>C	ENSP00000502743.1:p.Leu285=
ENST00000675859.1:c.955T>C	ENSP00000502033.1:p.Leu319=
ENST00000675863.1:n.963T>C
ENST00000675886.1:n.6995T>C
ENST00000676088.1:c.*897T>C	ENSP00000501884.1:n.*897T>C
ENST00000676140.1:c.955T>C	ENSP00000502571.1:p.Leu319=
ENST00000676164.1:c.*406T>C	ENSP00000501986.1:n.*406T>C
ENST00000676210.1:c.*244T>C	ENSP00000502373.1:n.*244T>C
ENST00000676259.1:c.*387T>C	ENSP00000501980.1:n.*387T>C
ENST00000676403.1:c.955T>C	ENSP00000502681.1:p.Leu319=
ENST00000389266.7:c.955T>C	ENSP00000373918.3:p.Leu319=
ENST00000478124.5:n.993T>C
NM_001316772.1:c.793T>C	NP_001303701.1:p.Leu265=
NM_002047.2:c.955T>C , LRG_243t1:c.955T>C	NP_002038.2:p.Leu319=
NM_002047.3:c.955T>C	NP_002038.2:p.Leu319=
XM_006715686.1:c.586T>C	XP_006715749.1:p.Leu196=
XM_006715686.2:c.586T>C	XP_006715749.1:p.Leu196=
NM_002047.4:c.955T>C MANE Select	NP_002038.2:p.Leu319=