Canonical Allele Identifier: CA1697769224

Gene: GARS1

Linked Data

• dbSNP Id: rs1584043260

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30621212T>C , CM000669.2:g.30621212T>C	GRCh38
NC_000007.13:g.30660828T>C , CM000669.1:g.30660828T>C	GRCh37
NC_000007.12:g.30627353T>C	NCBI36
NG_007942.1:g.31648T>C , LRG_243:g.31648T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1360-181T>C MANE Select	ENSP00000373918.3:n.1360-181T>C
ENST00000444666.6:c.1360-181T>C	ENSP00000415447.2:n.1360-181T>C
ENST00000470392.2:n.1450-181T>C
ENST00000478124.6:n.1423-181T>C
ENST00000485784.2:n.1439-181T>C
ENST00000674616.1:c.*1074-181T>C	ENSP00000502408.1:n.*1074-181T>C
ENST00000674643.1:c.*460-181T>C	ENSP00000501636.1:n.*460-181T>C
ENST00000674734.1:n.1856-181T>C
ENST00000674737.1:c.*698-181T>C	ENSP00000502464.1:n.*698-181T>C
ENST00000674807.1:c.1360-181T>C	ENSP00000502814.1:n.1360-181T>C
ENST00000674815.1:c.991-181T>C	ENSP00000502799.1:n.991-181T>C
ENST00000674851.1:c.991-181T>C	ENSP00000502451.1:n.991-181T>C
ENST00000674969.1:n.3233-181T>C
ENST00000675051.1:c.1159-181T>C	ENSP00000502296.1:n.1159-181T>C
ENST00000675529.1:c.*1230-181T>C	ENSP00000501655.1:n.*1230-181T>C
ENST00000675587.1:n.1376-181T>C
ENST00000675651.1:c.1360-181T>C	ENSP00000502513.1:n.1360-181T>C
ENST00000675693.1:c.1192-181T>C	ENSP00000502174.1:n.1192-181T>C
ENST00000675810.1:c.1258-181T>C	ENSP00000502743.1:n.1258-181T>C
ENST00000675859.1:c.1360-181T>C	ENSP00000502033.1:n.1360-181T>C
ENST00000675863.1:n.1368-181T>C
ENST00000675886.1:n.7400-181T>C
ENST00000676088.1:c.*1302-181T>C	ENSP00000501884.1:n.*1302-181T>C
ENST00000676140.1:c.*305-181T>C	ENSP00000502571.1:n.*305-181T>C
ENST00000676164.1:c.*811-181T>C	ENSP00000501986.1:n.*811-181T>C
ENST00000676210.1:c.*649-181T>C	ENSP00000502373.1:n.*649-181T>C
ENST00000676259.1:c.*792-181T>C	ENSP00000501980.1:n.*792-181T>C
ENST00000676403.1:c.1360-181T>C	ENSP00000502681.1:n.1360-181T>C
ENST00000389266.7:c.1360-181T>C	ENSP00000373918.3:n.1360-181T>C
ENST00000478124.5:n.1398-181T>C
ENST00000484093.1:n.359-181T>C
NM_001316772.1:c.1198-181T>C	NP_001303701.1:n.1198-181T>C
NM_002047.2:c.1360-181T>C , LRG_243t1:c.1360-181T>C	NP_002038.2:n.1360-181T>C
NM_002047.3:c.1360-181T>C	NP_002038.2:n.1360-181T>C
XM_006715686.1:c.991-181T>C	XP_006715749.1:n.991-181T>C
XM_006715686.2:c.991-181T>C	XP_006715749.1:n.991-181T>C
NM_002047.4:c.1360-181T>C MANE Select	NP_002038.2:n.1360-181T>C