Canonical Allele Identifier: CA454246823

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30649296T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609680T>A , CM000669.2:g.30609680T>A	GRCh38
NC_000007.13:g.30649296T>A , CM000669.1:g.30649296T>A	GRCh37
NC_000007.12:g.30615821T>A	NCBI36
NG_007942.1:g.20116T>A , LRG_243:g.20116T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.831T>A MANE Select	ENSP00000373918.3:p.Ser277=
ENST00000444666.6:c.831T>A	ENSP00000415447.2:p.Ser277=
ENST00000470392.2:n.921T>A
ENST00000478124.6:n.894T>A
ENST00000485784.2:n.910T>A
ENST00000674616.1:c.*545T>A	ENSP00000502408.1:n.*545T>A
ENST00000674643.1:c.831T>A	ENSP00000501636.1:p.Ser277=
ENST00000674734.1:n.1327T>A
ENST00000674737.1:c.*169T>A	ENSP00000502464.1:n.*169T>A
ENST00000674807.1:c.831T>A	ENSP00000502814.1:p.Ser277=
ENST00000674815.1:c.462T>A	ENSP00000502799.1:p.Ser154=
ENST00000674851.1:c.462T>A	ENSP00000502451.1:p.Ser154=
ENST00000674969.1:n.2704T>A
ENST00000675051.1:c.630T>A	ENSP00000502296.1:p.Ser210=
ENST00000675529.1:c.*701T>A	ENSP00000501655.1:n.*701T>A
ENST00000675587.1:n.847T>A
ENST00000675651.1:c.831T>A	ENSP00000502513.1:p.Ser277=
ENST00000675693.1:c.663T>A	ENSP00000502174.1:p.Ser221=
ENST00000675810.1:c.729T>A	ENSP00000502743.1:p.Ser243=
ENST00000675859.1:c.831T>A	ENSP00000502033.1:p.Ser277=
ENST00000675863.1:n.839T>A
ENST00000675886.1:n.6871T>A
ENST00000676088.1:c.*773T>A	ENSP00000501884.1:n.*773T>A
ENST00000676140.1:c.831T>A	ENSP00000502571.1:p.Ser277=
ENST00000676164.1:c.*282T>A	ENSP00000501986.1:n.*282T>A
ENST00000676210.1:c.*120T>A	ENSP00000502373.1:n.*120T>A
ENST00000676259.1:c.*263T>A	ENSP00000501980.1:n.*263T>A
ENST00000676403.1:c.831T>A	ENSP00000502681.1:p.Ser277=
ENST00000389266.7:c.831T>A	ENSP00000373918.3:p.Ser277=
ENST00000478124.5:n.869T>A
NM_001316772.1:c.669T>A	NP_001303701.1:p.Ser223=
NM_002047.2:c.831T>A , LRG_243t1:c.831T>A	NP_002038.2:p.Ser277=
NM_002047.3:c.831T>A	NP_002038.2:p.Ser277=
XM_006715686.1:c.462T>A	XP_006715749.1:p.Ser154=
XM_006715686.2:c.462T>A	XP_006715749.1:p.Ser154=
NM_002047.4:c.831T>A MANE Select	NP_002038.2:p.Ser277=