Canonical Allele Identifier: CA367124111

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30649224A>C (hg19) ; chr7:g.30609608A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609608A>C , CM000669.2:g.30609608A>C	GRCh38
NC_000007.13:g.30649224A>C , CM000669.1:g.30649224A>C	GRCh37
NC_000007.12:g.30615749A>C	NCBI36
NG_007942.1:g.20044A>C , LRG_243:g.20044A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.759A>C MANE Select	ENSP00000373918.3:p.Glu253Asp
ENST00000444666.6:c.759A>C	ENSP00000415447.2:p.Glu253Asp
ENST00000470392.2:n.849A>C
ENST00000478124.6:n.822A>C
ENST00000485784.2:n.838A>C
ENST00000674616.1:c.*473A>C	ENSP00000502408.1:n.*473A>C
ENST00000674643.1:c.759A>C	ENSP00000501636.1:p.Glu253Asp
ENST00000674734.1:n.1255A>C
ENST00000674737.1:c.*97A>C	ENSP00000502464.1:n.*97A>C
ENST00000674807.1:c.759A>C	ENSP00000502814.1:p.Glu253Asp
ENST00000674815.1:c.390A>C	ENSP00000502799.1:p.Glu130Asp
ENST00000674851.1:c.390A>C	ENSP00000502451.1:p.Glu130Asp
ENST00000674969.1:n.2632A>C
ENST00000675051.1:c.558A>C	ENSP00000502296.1:p.Glu186Asp
ENST00000675529.1:c.*629A>C	ENSP00000501655.1:n.*629A>C
ENST00000675587.1:n.775A>C
ENST00000675651.1:c.759A>C	ENSP00000502513.1:p.Glu253Asp
ENST00000675693.1:c.591A>C	ENSP00000502174.1:p.Glu197Asp
ENST00000675810.1:c.657A>C	ENSP00000502743.1:p.Glu219Asp
ENST00000675859.1:c.759A>C	ENSP00000502033.1:p.Glu253Asp
ENST00000675863.1:n.767A>C
ENST00000675886.1:n.6799A>C
ENST00000676088.1:c.*701A>C	ENSP00000501884.1:n.*701A>C
ENST00000676140.1:c.759A>C	ENSP00000502571.1:p.Glu253Asp
ENST00000676164.1:c.*210A>C	ENSP00000501986.1:n.*210A>C
ENST00000676210.1:c.*48A>C	ENSP00000502373.1:n.*48A>C
ENST00000676259.1:c.*191A>C	ENSP00000501980.1:n.*191A>C
ENST00000676403.1:c.759A>C	ENSP00000502681.1:p.Glu253Asp
ENST00000389266.7:c.759A>C	ENSP00000373918.3:p.Glu253Asp
ENST00000478124.5:n.797A>C
NM_001316772.1:c.597A>C	NP_001303701.1:p.Glu199Asp
NM_002047.2:c.759A>C , LRG_243t1:c.759A>C	NP_002038.2:p.Glu253Asp
NM_002047.3:c.759A>C	NP_002038.2:p.Glu253Asp
XM_006715686.1:c.390A>C	XP_006715749.1:p.Glu130Asp
XM_006715686.2:c.390A>C	XP_006715749.1:p.Glu130Asp
NM_002047.4:c.759A>C MANE Select	NP_002038.2:p.Glu253Asp