Canonical Allele Identifier: CA454246863

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30651724A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612108A>G , CM000669.2:g.30612108A>G	GRCh38
NC_000007.13:g.30651724A>G , CM000669.1:g.30651724A>G	GRCh37
NC_000007.12:g.30618249A>G	NCBI36
NG_007942.1:g.22544A>G , LRG_243:g.22544A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.894A>G MANE Select	ENSP00000373918.3:p.Pro298=
ENST00000444666.6:c.894A>G	ENSP00000415447.2:p.Pro298=
ENST00000470392.2:n.984A>G
ENST00000478124.6:n.957A>G
ENST00000485784.2:n.973A>G
ENST00000674616.1:c.*608A>G	ENSP00000502408.1:n.*608A>G
ENST00000674643.1:c.894A>G	ENSP00000501636.1:p.Pro298=
ENST00000674734.1:n.1390A>G
ENST00000674737.1:c.*232A>G	ENSP00000502464.1:n.*232A>G
ENST00000674807.1:c.894A>G	ENSP00000502814.1:p.Pro298=
ENST00000674815.1:c.525A>G	ENSP00000502799.1:p.Pro175=
ENST00000674851.1:c.525A>G	ENSP00000502451.1:p.Pro175=
ENST00000674969.1:n.2767A>G
ENST00000675051.1:c.693A>G	ENSP00000502296.1:p.Pro231=
ENST00000675529.1:c.*764A>G	ENSP00000501655.1:n.*764A>G
ENST00000675587.1:n.910A>G
ENST00000675651.1:c.894A>G	ENSP00000502513.1:p.Pro298=
ENST00000675693.1:c.726A>G	ENSP00000502174.1:p.Pro242=
ENST00000675810.1:c.792A>G	ENSP00000502743.1:p.Pro264=
ENST00000675859.1:c.894A>G	ENSP00000502033.1:p.Pro298=
ENST00000675863.1:n.902A>G
ENST00000675886.1:n.6934A>G
ENST00000676088.1:c.*836A>G	ENSP00000501884.1:n.*836A>G
ENST00000676140.1:c.894A>G	ENSP00000502571.1:p.Pro298=
ENST00000676164.1:c.*345A>G	ENSP00000501986.1:n.*345A>G
ENST00000676210.1:c.*183A>G	ENSP00000502373.1:n.*183A>G
ENST00000676259.1:c.*326A>G	ENSP00000501980.1:n.*326A>G
ENST00000676403.1:c.894A>G	ENSP00000502681.1:p.Pro298=
ENST00000389266.7:c.894A>G	ENSP00000373918.3:p.Pro298=
ENST00000478124.5:n.932A>G
NM_001316772.1:c.732A>G	NP_001303701.1:p.Pro244=
NM_002047.2:c.894A>G , LRG_243t1:c.894A>G	NP_002038.2:p.Pro298=
NM_002047.3:c.894A>G	NP_002038.2:p.Pro298=
XM_006715686.1:c.525A>G	XP_006715749.1:p.Pro175=
XM_006715686.2:c.525A>G	XP_006715749.1:p.Pro175=
NM_002047.4:c.894A>G MANE Select	NP_002038.2:p.Pro298=