Canonical Allele Identifier: CA367125144

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30651806A>C (hg19) ; chr7:g.30612190A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612190A>C , CM000669.2:g.30612190A>C	GRCh38
NC_000007.13:g.30651806A>C , CM000669.1:g.30651806A>C	GRCh37
NC_000007.12:g.30618331A>C	NCBI36
NG_007942.1:g.22626A>C , LRG_243:g.22626A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.976A>C MANE Select	ENSP00000373918.3:p.Ile326Leu
ENST00000444666.6:c.976A>C	ENSP00000415447.2:p.Ile326Leu
ENST00000470392.2:n.1066A>C
ENST00000478124.6:n.1039A>C
ENST00000485784.2:n.1055A>C
ENST00000674616.1:c.*690A>C	ENSP00000502408.1:n.*690A>C
ENST00000674643.1:c.976A>C	ENSP00000501636.1:p.Ile326Leu
ENST00000674734.1:n.1472A>C
ENST00000674737.1:c.*314A>C	ENSP00000502464.1:n.*314A>C
ENST00000674807.1:c.976A>C	ENSP00000502814.1:p.Ile326Leu
ENST00000674815.1:c.607A>C	ENSP00000502799.1:p.Ile203Leu
ENST00000674851.1:c.607A>C	ENSP00000502451.1:p.Ile203Leu
ENST00000674969.1:n.2849A>C
ENST00000675051.1:c.775A>C	ENSP00000502296.1:p.Ile259Leu
ENST00000675529.1:c.*846A>C	ENSP00000501655.1:n.*846A>C
ENST00000675587.1:n.992A>C
ENST00000675651.1:c.976A>C	ENSP00000502513.1:p.Ile326Leu
ENST00000675693.1:c.808A>C	ENSP00000502174.1:p.Ile270Leu
ENST00000675810.1:c.874A>C	ENSP00000502743.1:p.Ile292Leu
ENST00000675859.1:c.976A>C	ENSP00000502033.1:p.Ile326Leu
ENST00000675863.1:n.984A>C
ENST00000675886.1:n.7016A>C
ENST00000676088.1:c.*918A>C	ENSP00000501884.1:n.*918A>C
ENST00000676140.1:c.976A>C	ENSP00000502571.1:p.Ile326Leu
ENST00000676164.1:c.*427A>C	ENSP00000501986.1:n.*427A>C
ENST00000676210.1:c.*265A>C	ENSP00000502373.1:n.*265A>C
ENST00000676259.1:c.*408A>C	ENSP00000501980.1:n.*408A>C
ENST00000676403.1:c.976A>C	ENSP00000502681.1:p.Ile326Leu
ENST00000389266.7:c.976A>C	ENSP00000373918.3:p.Ile326Leu
ENST00000478124.5:n.1014A>C
NM_001316772.1:c.814A>C	NP_001303701.1:p.Ile272Leu
NM_002047.2:c.976A>C , LRG_243t1:c.976A>C	NP_002038.2:p.Ile326Leu
NM_002047.3:c.976A>C	NP_002038.2:p.Ile326Leu
XM_006715686.1:c.607A>C	XP_006715749.1:p.Ile203Leu
XM_006715686.2:c.607A>C	XP_006715749.1:p.Ile203Leu
NM_002047.4:c.976A>C MANE Select	NP_002038.2:p.Ile326Leu