Canonical Allele Identifier: CA454247004

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30651796T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612180T>C , CM000669.2:g.30612180T>C	GRCh38
NC_000007.13:g.30651796T>C , CM000669.1:g.30651796T>C	GRCh37
NC_000007.12:g.30618321T>C	NCBI36
NG_007942.1:g.22616T>C , LRG_243:g.22616T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.966T>C MANE Select	ENSP00000373918.3:p.Ala322=
ENST00000444666.6:c.966T>C	ENSP00000415447.2:p.Ala322=
ENST00000470392.2:n.1056T>C
ENST00000478124.6:n.1029T>C
ENST00000485784.2:n.1045T>C
ENST00000674616.1:c.*680T>C	ENSP00000502408.1:n.*680T>C
ENST00000674643.1:c.966T>C	ENSP00000501636.1:p.Ala322=
ENST00000674734.1:n.1462T>C
ENST00000674737.1:c.*304T>C	ENSP00000502464.1:n.*304T>C
ENST00000674807.1:c.966T>C	ENSP00000502814.1:p.Ala322=
ENST00000674815.1:c.597T>C	ENSP00000502799.1:p.Ala199=
ENST00000674851.1:c.597T>C	ENSP00000502451.1:p.Ala199=
ENST00000674969.1:n.2839T>C
ENST00000675051.1:c.765T>C	ENSP00000502296.1:p.Ala255=
ENST00000675529.1:c.*836T>C	ENSP00000501655.1:n.*836T>C
ENST00000675587.1:n.982T>C
ENST00000675651.1:c.966T>C	ENSP00000502513.1:p.Ala322=
ENST00000675693.1:c.798T>C	ENSP00000502174.1:p.Ala266=
ENST00000675810.1:c.864T>C	ENSP00000502743.1:p.Ala288=
ENST00000675859.1:c.966T>C	ENSP00000502033.1:p.Ala322=
ENST00000675863.1:n.974T>C
ENST00000675886.1:n.7006T>C
ENST00000676088.1:c.*908T>C	ENSP00000501884.1:n.*908T>C
ENST00000676140.1:c.966T>C	ENSP00000502571.1:p.Ala322=
ENST00000676164.1:c.*417T>C	ENSP00000501986.1:n.*417T>C
ENST00000676210.1:c.*255T>C	ENSP00000502373.1:n.*255T>C
ENST00000676259.1:c.*398T>C	ENSP00000501980.1:n.*398T>C
ENST00000676403.1:c.966T>C	ENSP00000502681.1:p.Ala322=
ENST00000389266.7:c.966T>C	ENSP00000373918.3:p.Ala322=
ENST00000478124.5:n.1004T>C
NM_001316772.1:c.804T>C	NP_001303701.1:p.Ala268=
NM_002047.2:c.966T>C , LRG_243t1:c.966T>C	NP_002038.2:p.Ala322=
NM_002047.3:c.966T>C	NP_002038.2:p.Ala322=
XM_006715686.1:c.597T>C	XP_006715749.1:p.Ala199=
XM_006715686.2:c.597T>C	XP_006715749.1:p.Ala199=
NM_002047.4:c.966T>C MANE Select	NP_002038.2:p.Ala322=