Canonical Allele Identifier: CA367124079

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30649218G>T (hg19) ; chr7:g.30609602G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609602G>T , CM000669.2:g.30609602G>T	GRCh38
NC_000007.13:g.30649218G>T , CM000669.1:g.30649218G>T	GRCh37
NC_000007.12:g.30615743G>T	NCBI36
NG_007942.1:g.20038G>T , LRG_243:g.20038G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.753G>T MANE Select	ENSP00000373918.3:p.Gln251His
ENST00000444666.6:c.753G>T	ENSP00000415447.2:p.Gln251His
ENST00000470392.2:n.843G>T
ENST00000478124.6:n.816G>T
ENST00000485784.2:n.832G>T
ENST00000674616.1:c.*467G>T	ENSP00000502408.1:n.*467G>T
ENST00000674643.1:c.753G>T	ENSP00000501636.1:p.Gln251His
ENST00000674734.1:n.1249G>T
ENST00000674737.1:c.*91G>T	ENSP00000502464.1:n.*91G>T
ENST00000674807.1:c.753G>T	ENSP00000502814.1:p.Gln251His
ENST00000674815.1:c.384G>T	ENSP00000502799.1:p.Gln128His
ENST00000674851.1:c.384G>T	ENSP00000502451.1:p.Gln128His
ENST00000674969.1:n.2626G>T
ENST00000675051.1:c.552G>T	ENSP00000502296.1:p.Gln184His
ENST00000675529.1:c.*623G>T	ENSP00000501655.1:n.*623G>T
ENST00000675587.1:n.769G>T
ENST00000675651.1:c.753G>T	ENSP00000502513.1:p.Gln251His
ENST00000675693.1:c.585G>T	ENSP00000502174.1:p.Gln195His
ENST00000675810.1:c.651G>T	ENSP00000502743.1:p.Gln217His
ENST00000675859.1:c.753G>T	ENSP00000502033.1:p.Gln251His
ENST00000675863.1:n.761G>T
ENST00000675886.1:n.6793G>T
ENST00000676088.1:c.*695G>T	ENSP00000501884.1:n.*695G>T
ENST00000676140.1:c.753G>T	ENSP00000502571.1:p.Gln251His
ENST00000676164.1:c.*204G>T	ENSP00000501986.1:n.*204G>T
ENST00000676210.1:c.*42G>T	ENSP00000502373.1:n.*42G>T
ENST00000676259.1:c.*185G>T	ENSP00000501980.1:n.*185G>T
ENST00000676403.1:c.753G>T	ENSP00000502681.1:p.Gln251His
ENST00000389266.7:c.753G>T	ENSP00000373918.3:p.Gln251His
ENST00000478124.5:n.791G>T
NM_001316772.1:c.591G>T	NP_001303701.1:p.Gln197His
NM_002047.2:c.753G>T , LRG_243t1:c.753G>T	NP_002038.2:p.Gln251His
NM_002047.3:c.753G>T	NP_002038.2:p.Gln251His
XM_006715686.1:c.384G>T	XP_006715749.1:p.Gln128His
XM_006715686.2:c.384G>T	XP_006715749.1:p.Gln128His
NM_002047.4:c.753G>T MANE Select	NP_002038.2:p.Gln251His