Canonical Allele Identifier: CA367124913

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30651744T>A (hg19) ; chr7:g.30612128T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612128T>A , CM000669.2:g.30612128T>A	GRCh38
NC_000007.13:g.30651744T>A , CM000669.1:g.30651744T>A	GRCh37
NC_000007.12:g.30618269T>A	NCBI36
NG_007942.1:g.22564T>A , LRG_243:g.22564T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.914T>A MANE Select	ENSP00000373918.3:p.Phe305Tyr
ENST00000444666.6:c.914T>A	ENSP00000415447.2:p.Phe305Tyr
ENST00000470392.2:n.1004T>A
ENST00000478124.6:n.977T>A
ENST00000485784.2:n.993T>A
ENST00000674616.1:c.*628T>A	ENSP00000502408.1:n.*628T>A
ENST00000674643.1:c.914T>A	ENSP00000501636.1:p.Phe305Tyr
ENST00000674734.1:n.1410T>A
ENST00000674737.1:c.*252T>A	ENSP00000502464.1:n.*252T>A
ENST00000674807.1:c.914T>A	ENSP00000502814.1:p.Phe305Tyr
ENST00000674815.1:c.545T>A	ENSP00000502799.1:p.Phe182Tyr
ENST00000674851.1:c.545T>A	ENSP00000502451.1:p.Phe182Tyr
ENST00000674969.1:n.2787T>A
ENST00000675051.1:c.713T>A	ENSP00000502296.1:p.Phe238Tyr
ENST00000675529.1:c.*784T>A	ENSP00000501655.1:n.*784T>A
ENST00000675587.1:n.930T>A
ENST00000675651.1:c.914T>A	ENSP00000502513.1:p.Phe305Tyr
ENST00000675693.1:c.746T>A	ENSP00000502174.1:p.Phe249Tyr
ENST00000675810.1:c.812T>A	ENSP00000502743.1:p.Phe271Tyr
ENST00000675859.1:c.914T>A	ENSP00000502033.1:p.Phe305Tyr
ENST00000675863.1:n.922T>A
ENST00000675886.1:n.6954T>A
ENST00000676088.1:c.*856T>A	ENSP00000501884.1:n.*856T>A
ENST00000676140.1:c.914T>A	ENSP00000502571.1:p.Phe305Tyr
ENST00000676164.1:c.*365T>A	ENSP00000501986.1:n.*365T>A
ENST00000676210.1:c.*203T>A	ENSP00000502373.1:n.*203T>A
ENST00000676259.1:c.*346T>A	ENSP00000501980.1:n.*346T>A
ENST00000676403.1:c.914T>A	ENSP00000502681.1:p.Phe305Tyr
ENST00000389266.7:c.914T>A	ENSP00000373918.3:p.Phe305Tyr
ENST00000478124.5:n.952T>A
NM_001316772.1:c.752T>A	NP_001303701.1:p.Phe251Tyr
NM_002047.2:c.914T>A , LRG_243t1:c.914T>A	NP_002038.2:p.Phe305Tyr
NM_002047.3:c.914T>A	NP_002038.2:p.Phe305Tyr
XM_006715686.1:c.545T>A	XP_006715749.1:p.Phe182Tyr
XM_006715686.2:c.545T>A	XP_006715749.1:p.Phe182Tyr
NM_002047.4:c.914T>A MANE Select	NP_002038.2:p.Phe305Tyr