Canonical Allele Identifier: CA367125016

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30651772C>G (hg19) ; chr7:g.30612156C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612156C>G , CM000669.2:g.30612156C>G	GRCh38
NC_000007.13:g.30651772C>G , CM000669.1:g.30651772C>G	GRCh37
NC_000007.12:g.30618297C>G	NCBI36
NG_007942.1:g.22592C>G , LRG_243:g.22592C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.942C>G MANE Select	ENSP00000373918.3:p.Phe314Leu
ENST00000444666.6:c.942C>G	ENSP00000415447.2:p.Phe314Leu
ENST00000470392.2:n.1032C>G
ENST00000478124.6:n.1005C>G
ENST00000485784.2:n.1021C>G
ENST00000674616.1:c.*656C>G	ENSP00000502408.1:n.*656C>G
ENST00000674643.1:c.942C>G	ENSP00000501636.1:p.Phe314Leu
ENST00000674734.1:n.1438C>G
ENST00000674737.1:c.*280C>G	ENSP00000502464.1:n.*280C>G
ENST00000674807.1:c.942C>G	ENSP00000502814.1:p.Phe314Leu
ENST00000674815.1:c.573C>G	ENSP00000502799.1:p.Phe191Leu
ENST00000674851.1:c.573C>G	ENSP00000502451.1:p.Phe191Leu
ENST00000674969.1:n.2815C>G
ENST00000675051.1:c.741C>G	ENSP00000502296.1:p.Phe247Leu
ENST00000675529.1:c.*812C>G	ENSP00000501655.1:n.*812C>G
ENST00000675587.1:n.958C>G
ENST00000675651.1:c.942C>G	ENSP00000502513.1:p.Phe314Leu
ENST00000675693.1:c.774C>G	ENSP00000502174.1:p.Phe258Leu
ENST00000675810.1:c.840C>G	ENSP00000502743.1:p.Phe280Leu
ENST00000675859.1:c.942C>G	ENSP00000502033.1:p.Phe314Leu
ENST00000675863.1:n.950C>G
ENST00000675886.1:n.6982C>G
ENST00000676088.1:c.*884C>G	ENSP00000501884.1:n.*884C>G
ENST00000676140.1:c.942C>G	ENSP00000502571.1:p.Phe314Leu
ENST00000676164.1:c.*393C>G	ENSP00000501986.1:n.*393C>G
ENST00000676210.1:c.*231C>G	ENSP00000502373.1:n.*231C>G
ENST00000676259.1:c.*374C>G	ENSP00000501980.1:n.*374C>G
ENST00000676403.1:c.942C>G	ENSP00000502681.1:p.Phe314Leu
ENST00000389266.7:c.942C>G	ENSP00000373918.3:p.Phe314Leu
ENST00000478124.5:n.980C>G
NM_001316772.1:c.780C>G	NP_001303701.1:p.Phe260Leu
NM_002047.2:c.942C>G , LRG_243t1:c.942C>G	NP_002038.2:p.Phe314Leu
NM_002047.3:c.942C>G	NP_002038.2:p.Phe314Leu
XM_006715686.1:c.573C>G	XP_006715749.1:p.Phe191Leu
XM_006715686.2:c.573C>G	XP_006715749.1:p.Phe191Leu
NM_002047.4:c.942C>G MANE Select	NP_002038.2:p.Phe314Leu