Canonical Allele Identifier: CA454246830

Gene: GARS1

Linked Data

• gnomAD v4: 7-30609698-G-A
• MyVariant Identifiers: chr7:g.30649314G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609698G>A , CM000669.2:g.30609698G>A	GRCh38
NC_000007.13:g.30649314G>A , CM000669.1:g.30649314G>A	GRCh37
NC_000007.12:g.30615839G>A	NCBI36
NG_007942.1:g.20134G>A , LRG_243:g.20134G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.849G>A MANE Select	ENSP00000373918.3:p.Lys283=
ENST00000444666.6:c.849G>A	ENSP00000415447.2:p.Lys283=
ENST00000470392.2:n.939G>A
ENST00000478124.6:n.912G>A
ENST00000485784.2:n.928G>A
ENST00000674616.1:c.*563G>A	ENSP00000502408.1:n.*563G>A
ENST00000674643.1:c.849G>A	ENSP00000501636.1:p.Lys283=
ENST00000674734.1:n.1345G>A
ENST00000674737.1:c.*187G>A	ENSP00000502464.1:n.*187G>A
ENST00000674807.1:c.849G>A	ENSP00000502814.1:p.Lys283=
ENST00000674815.1:c.480G>A	ENSP00000502799.1:p.Lys160=
ENST00000674851.1:c.480G>A	ENSP00000502451.1:p.Lys160=
ENST00000674969.1:n.2722G>A
ENST00000675051.1:c.648G>A	ENSP00000502296.1:p.Lys216=
ENST00000675529.1:c.*719G>A	ENSP00000501655.1:n.*719G>A
ENST00000675587.1:n.865G>A
ENST00000675651.1:c.849G>A	ENSP00000502513.1:p.Lys283=
ENST00000675693.1:c.681G>A	ENSP00000502174.1:p.Lys227=
ENST00000675810.1:c.747G>A	ENSP00000502743.1:p.Lys249=
ENST00000675859.1:c.849G>A	ENSP00000502033.1:p.Lys283=
ENST00000675863.1:n.857G>A
ENST00000675886.1:n.6889G>A
ENST00000676088.1:c.*791G>A	ENSP00000501884.1:n.*791G>A
ENST00000676140.1:c.849G>A	ENSP00000502571.1:p.Lys283=
ENST00000676164.1:c.*300G>A	ENSP00000501986.1:n.*300G>A
ENST00000676210.1:c.*138G>A	ENSP00000502373.1:n.*138G>A
ENST00000676259.1:c.*281G>A	ENSP00000501980.1:n.*281G>A
ENST00000676403.1:c.849G>A	ENSP00000502681.1:p.Lys283=
ENST00000389266.7:c.849G>A	ENSP00000373918.3:p.Lys283=
ENST00000478124.5:n.887G>A
NM_001316772.1:c.687G>A	NP_001303701.1:p.Lys229=
NM_002047.2:c.849G>A , LRG_243t1:c.849G>A	NP_002038.2:p.Lys283=
NM_002047.3:c.849G>A	NP_002038.2:p.Lys283=
XM_006715686.1:c.480G>A	XP_006715749.1:p.Lys160=
XM_006715686.2:c.480G>A	XP_006715749.1:p.Lys160=
NM_002047.4:c.849G>A MANE Select	NP_002038.2:p.Lys283=