Canonical Allele Identifier: CA367139027

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30638498G>T (hg19) ; chr7:g.30598882G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30598882G>T , CM000669.2:g.30598882G>T	GRCh38
NC_000007.13:g.30638498G>T , CM000669.1:g.30638498G>T	GRCh37
NC_000007.12:g.30605023G>T	NCBI36
NG_007942.1:g.9318G>T , LRG_243:g.9318G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.309G>T MANE Select	ENSP00000373918.3:p.Arg103Ser
ENST00000444666.6:c.309G>T	ENSP00000415447.2:p.Arg103Ser
ENST00000454308.6:c.309G>T	ENSP00000392677.2:p.Arg103Ser
ENST00000470392.2:n.399G>T
ENST00000478124.6:n.372G>T
ENST00000485784.2:n.388G>T
ENST00000674616.1:c.309G>T	ENSP00000502408.1:p.Arg103Ser
ENST00000674643.1:c.309G>T	ENSP00000501636.1:p.Arg103Ser
ENST00000674737.1:c.309G>T	ENSP00000502464.1:p.Arg103Ser
ENST00000674807.1:c.309G>T	ENSP00000502814.1:p.Arg103Ser
ENST00000674815.1:c.-61G>T	ENSP00000502799.1:n.-61G>T
ENST00000674851.1:c.-61G>T	ENSP00000502451.1:n.-61G>T
ENST00000674969.1:n.349G>T
ENST00000675025.1:n.225G>T
ENST00000675051.1:c.108G>T	ENSP00000502296.1:p.Arg36Ser
ENST00000675529.1:c.*179G>T	ENSP00000501655.1:n.*179G>T
ENST00000675587.1:n.325G>T
ENST00000675651.1:c.309G>T	ENSP00000502513.1:p.Arg103Ser
ENST00000675693.1:c.141G>T	ENSP00000502174.1:p.Arg47Ser
ENST00000675810.1:c.223-1065G>T	ENSP00000502743.1:n.223-1065G>T
ENST00000675859.1:c.309G>T	ENSP00000502033.1:p.Arg103Ser
ENST00000675863.1:n.317G>T
ENST00000675886.1:n.337G>T
ENST00000676088.1:c.*179G>T	ENSP00000501884.1:n.*179G>T
ENST00000676140.1:c.309G>T	ENSP00000502571.1:p.Arg103Ser
ENST00000676164.1:c.309G>T	ENSP00000501986.1:p.Arg103Ser
ENST00000676210.1:c.309G>T	ENSP00000502373.1:p.Arg103Ser
ENST00000676259.1:c.309G>T	ENSP00000501980.1:p.Arg103Ser
ENST00000676403.1:c.309G>T	ENSP00000502681.1:p.Arg103Ser
ENST00000389266.7:c.309G>T	ENSP00000373918.3:p.Arg103Ser
ENST00000454308.5:c.*179G>T	ENSP00000392677.1:n.*179G>T
ENST00000478124.5:n.347G>T
NM_001316772.1:c.147G>T	NP_001303701.1:p.Arg49Ser
NM_002047.2:c.309G>T , LRG_243t1:c.309G>T	NP_002038.2:p.Arg103Ser
NM_002047.3:c.309G>T	NP_002038.2:p.Arg103Ser
XM_006715686.1:c.-61G>T	XP_006715749.1:n.-61G>T
XM_006715686.2:c.-61G>T	XP_006715749.1:n.-61G>T
NM_002047.4:c.309G>T MANE Select	NP_002038.2:p.Arg103Ser