Canonical Allele Identifier: CA367124824

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30651718G>C (hg19) ; chr7:g.30612102G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612102G>C , CM000669.2:g.30612102G>C	GRCh38
NC_000007.13:g.30651718G>C , CM000669.1:g.30651718G>C	GRCh37
NC_000007.12:g.30618243G>C	NCBI36
NG_007942.1:g.22538G>C , LRG_243:g.22538G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.888G>C MANE Select	ENSP00000373918.3:p.Leu296Phe
ENST00000444666.6:c.888G>C	ENSP00000415447.2:p.Leu296Phe
ENST00000470392.2:n.978G>C
ENST00000478124.6:n.951G>C
ENST00000485784.2:n.967G>C
ENST00000674616.1:c.*602G>C	ENSP00000502408.1:n.*602G>C
ENST00000674643.1:c.888G>C	ENSP00000501636.1:p.Leu296Phe
ENST00000674734.1:n.1384G>C
ENST00000674737.1:c.*226G>C	ENSP00000502464.1:n.*226G>C
ENST00000674807.1:c.888G>C	ENSP00000502814.1:p.Leu296Phe
ENST00000674815.1:c.519G>C	ENSP00000502799.1:p.Leu173Phe
ENST00000674851.1:c.519G>C	ENSP00000502451.1:p.Leu173Phe
ENST00000674969.1:n.2761G>C
ENST00000675051.1:c.687G>C	ENSP00000502296.1:p.Leu229Phe
ENST00000675529.1:c.*758G>C	ENSP00000501655.1:n.*758G>C
ENST00000675587.1:n.904G>C
ENST00000675651.1:c.888G>C	ENSP00000502513.1:p.Leu296Phe
ENST00000675693.1:c.720G>C	ENSP00000502174.1:p.Leu240Phe
ENST00000675810.1:c.786G>C	ENSP00000502743.1:p.Leu262Phe
ENST00000675859.1:c.888G>C	ENSP00000502033.1:p.Leu296Phe
ENST00000675863.1:n.896G>C
ENST00000675886.1:n.6928G>C
ENST00000676088.1:c.*830G>C	ENSP00000501884.1:n.*830G>C
ENST00000676140.1:c.888G>C	ENSP00000502571.1:p.Leu296Phe
ENST00000676164.1:c.*339G>C	ENSP00000501986.1:n.*339G>C
ENST00000676210.1:c.*177G>C	ENSP00000502373.1:n.*177G>C
ENST00000676259.1:c.*320G>C	ENSP00000501980.1:n.*320G>C
ENST00000676403.1:c.888G>C	ENSP00000502681.1:p.Leu296Phe
ENST00000389266.7:c.888G>C	ENSP00000373918.3:p.Leu296Phe
ENST00000478124.5:n.926G>C
NM_001316772.1:c.726G>C	NP_001303701.1:p.Leu242Phe
NM_002047.2:c.888G>C , LRG_243t1:c.888G>C	NP_002038.2:p.Leu296Phe
NM_002047.3:c.888G>C	NP_002038.2:p.Leu296Phe
XM_006715686.1:c.519G>C	XP_006715749.1:p.Leu173Phe
XM_006715686.2:c.519G>C	XP_006715749.1:p.Leu173Phe
NM_002047.4:c.888G>C MANE Select	NP_002038.2:p.Leu296Phe