Canonical Allele Identifier: CA454246891

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30651763T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612147T>G , CM000669.2:g.30612147T>G	GRCh38
NC_000007.13:g.30651763T>G , CM000669.1:g.30651763T>G	GRCh37
NC_000007.12:g.30618288T>G	NCBI36
NG_007942.1:g.22583T>G , LRG_243:g.22583T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.933T>G MANE Select	ENSP00000373918.3:p.Leu311=
ENST00000444666.6:c.933T>G	ENSP00000415447.2:p.Leu311=
ENST00000470392.2:n.1023T>G
ENST00000478124.6:n.996T>G
ENST00000485784.2:n.1012T>G
ENST00000674616.1:c.*647T>G	ENSP00000502408.1:n.*647T>G
ENST00000674643.1:c.933T>G	ENSP00000501636.1:p.Leu311=
ENST00000674734.1:n.1429T>G
ENST00000674737.1:c.*271T>G	ENSP00000502464.1:n.*271T>G
ENST00000674807.1:c.933T>G	ENSP00000502814.1:p.Leu311=
ENST00000674815.1:c.564T>G	ENSP00000502799.1:p.Leu188=
ENST00000674851.1:c.564T>G	ENSP00000502451.1:p.Leu188=
ENST00000674969.1:n.2806T>G
ENST00000675051.1:c.732T>G	ENSP00000502296.1:p.Leu244=
ENST00000675529.1:c.*803T>G	ENSP00000501655.1:n.*803T>G
ENST00000675587.1:n.949T>G
ENST00000675651.1:c.933T>G	ENSP00000502513.1:p.Leu311=
ENST00000675693.1:c.765T>G	ENSP00000502174.1:p.Leu255=
ENST00000675810.1:c.831T>G	ENSP00000502743.1:p.Leu277=
ENST00000675859.1:c.933T>G	ENSP00000502033.1:p.Leu311=
ENST00000675863.1:n.941T>G
ENST00000675886.1:n.6973T>G
ENST00000676088.1:c.*875T>G	ENSP00000501884.1:n.*875T>G
ENST00000676140.1:c.933T>G	ENSP00000502571.1:p.Leu311=
ENST00000676164.1:c.*384T>G	ENSP00000501986.1:n.*384T>G
ENST00000676210.1:c.*222T>G	ENSP00000502373.1:n.*222T>G
ENST00000676259.1:c.*365T>G	ENSP00000501980.1:n.*365T>G
ENST00000676403.1:c.933T>G	ENSP00000502681.1:p.Leu311=
ENST00000389266.7:c.933T>G	ENSP00000373918.3:p.Leu311=
ENST00000478124.5:n.971T>G
NM_001316772.1:c.771T>G	NP_001303701.1:p.Leu257=
NM_002047.2:c.933T>G , LRG_243t1:c.933T>G	NP_002038.2:p.Leu311=
NM_002047.3:c.933T>G	NP_002038.2:p.Leu311=
XM_006715686.1:c.564T>G	XP_006715749.1:p.Leu188=
XM_006715686.2:c.564T>G	XP_006715749.1:p.Leu188=
NM_002047.4:c.933T>G MANE Select	NP_002038.2:p.Leu311=