Canonical Allele Identifier: CA367124877

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30651734C>A (hg19) ; chr7:g.30612118C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612118C>A , CM000669.2:g.30612118C>A	GRCh38
NC_000007.13:g.30651734C>A , CM000669.1:g.30651734C>A	GRCh37
NC_000007.12:g.30618259C>A	NCBI36
NG_007942.1:g.22554C>A , LRG_243:g.22554C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.904C>A MANE Select	ENSP00000373918.3:p.Gln302Lys
ENST00000444666.6:c.904C>A	ENSP00000415447.2:p.Gln302Lys
ENST00000470392.2:n.994C>A
ENST00000478124.6:n.967C>A
ENST00000485784.2:n.983C>A
ENST00000674616.1:c.*618C>A	ENSP00000502408.1:n.*618C>A
ENST00000674643.1:c.904C>A	ENSP00000501636.1:p.Gln302Lys
ENST00000674734.1:n.1400C>A
ENST00000674737.1:c.*242C>A	ENSP00000502464.1:n.*242C>A
ENST00000674807.1:c.904C>A	ENSP00000502814.1:p.Gln302Lys
ENST00000674815.1:c.535C>A	ENSP00000502799.1:p.Gln179Lys
ENST00000674851.1:c.535C>A	ENSP00000502451.1:p.Gln179Lys
ENST00000674969.1:n.2777C>A
ENST00000675051.1:c.703C>A	ENSP00000502296.1:p.Gln235Lys
ENST00000675529.1:c.*774C>A	ENSP00000501655.1:n.*774C>A
ENST00000675587.1:n.920C>A
ENST00000675651.1:c.904C>A	ENSP00000502513.1:p.Gln302Lys
ENST00000675693.1:c.736C>A	ENSP00000502174.1:p.Gln246Lys
ENST00000675810.1:c.802C>A	ENSP00000502743.1:p.Gln268Lys
ENST00000675859.1:c.904C>A	ENSP00000502033.1:p.Gln302Lys
ENST00000675863.1:n.912C>A
ENST00000675886.1:n.6944C>A
ENST00000676088.1:c.*846C>A	ENSP00000501884.1:n.*846C>A
ENST00000676140.1:c.904C>A	ENSP00000502571.1:p.Gln302Lys
ENST00000676164.1:c.*355C>A	ENSP00000501986.1:n.*355C>A
ENST00000676210.1:c.*193C>A	ENSP00000502373.1:n.*193C>A
ENST00000676259.1:c.*336C>A	ENSP00000501980.1:n.*336C>A
ENST00000676403.1:c.904C>A	ENSP00000502681.1:p.Gln302Lys
ENST00000389266.7:c.904C>A	ENSP00000373918.3:p.Gln302Lys
ENST00000478124.5:n.942C>A
NM_001316772.1:c.742C>A	NP_001303701.1:p.Gln248Lys
NM_002047.2:c.904C>A , LRG_243t1:c.904C>A	NP_002038.2:p.Gln302Lys
NM_002047.3:c.904C>A	NP_002038.2:p.Gln302Lys
XM_006715686.1:c.535C>A	XP_006715749.1:p.Gln179Lys
XM_006715686.2:c.535C>A	XP_006715749.1:p.Gln179Lys
NM_002047.4:c.904C>A MANE Select	NP_002038.2:p.Gln302Lys