Canonical Allele Identifier: CA454246805

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30649272A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609656A>C , CM000669.2:g.30609656A>C	GRCh38
NC_000007.13:g.30649272A>C , CM000669.1:g.30649272A>C	GRCh37
NC_000007.12:g.30615797A>C	NCBI36
NG_007942.1:g.20092A>C , LRG_243:g.20092A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.807A>C MANE Select	ENSP00000373918.3:p.Gly269=
ENST00000444666.6:c.807A>C	ENSP00000415447.2:p.Gly269=
ENST00000470392.2:n.897A>C
ENST00000478124.6:n.870A>C
ENST00000485784.2:n.886A>C
ENST00000674616.1:c.*521A>C	ENSP00000502408.1:n.*521A>C
ENST00000674643.1:c.807A>C	ENSP00000501636.1:p.Gly269=
ENST00000674734.1:n.1303A>C
ENST00000674737.1:c.*145A>C	ENSP00000502464.1:n.*145A>C
ENST00000674807.1:c.807A>C	ENSP00000502814.1:p.Gly269=
ENST00000674815.1:c.438A>C	ENSP00000502799.1:p.Gly146=
ENST00000674851.1:c.438A>C	ENSP00000502451.1:p.Gly146=
ENST00000674969.1:n.2680A>C
ENST00000675051.1:c.606A>C	ENSP00000502296.1:p.Gly202=
ENST00000675529.1:c.*677A>C	ENSP00000501655.1:n.*677A>C
ENST00000675587.1:n.823A>C
ENST00000675651.1:c.807A>C	ENSP00000502513.1:p.Gly269=
ENST00000675693.1:c.639A>C	ENSP00000502174.1:p.Gly213=
ENST00000675810.1:c.705A>C	ENSP00000502743.1:p.Gly235=
ENST00000675859.1:c.807A>C	ENSP00000502033.1:p.Gly269=
ENST00000675863.1:n.815A>C
ENST00000675886.1:n.6847A>C
ENST00000676088.1:c.*749A>C	ENSP00000501884.1:n.*749A>C
ENST00000676140.1:c.807A>C	ENSP00000502571.1:p.Gly269=
ENST00000676164.1:c.*258A>C	ENSP00000501986.1:n.*258A>C
ENST00000676210.1:c.*96A>C	ENSP00000502373.1:n.*96A>C
ENST00000676259.1:c.*239A>C	ENSP00000501980.1:n.*239A>C
ENST00000676403.1:c.807A>C	ENSP00000502681.1:p.Gly269=
ENST00000389266.7:c.807A>C	ENSP00000373918.3:p.Gly269=
ENST00000478124.5:n.845A>C
NM_001316772.1:c.645A>C	NP_001303701.1:p.Gly215=
NM_002047.2:c.807A>C , LRG_243t1:c.807A>C	NP_002038.2:p.Gly269=
NM_002047.3:c.807A>C	NP_002038.2:p.Gly269=
XM_006715686.1:c.438A>C	XP_006715749.1:p.Gly146=
XM_006715686.2:c.438A>C	XP_006715749.1:p.Gly146=
NM_002047.4:c.807A>C MANE Select	NP_002038.2:p.Gly269=