Canonical Allele Identifier: CA367130471

Gene: GARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30632298G>C , CM000669.2:g.30632298G>C	GRCh38
NC_000007.13:g.30671914G>C , CM000669.1:g.30671914G>C	GRCh37
NC_000007.12:g.30638439G>C	NCBI36
NG_007942.1:g.42734G>C , LRG_243:g.42734G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002047.4:c.1955G>C MANE Select	NP_002038.2:p.Gly652Ala
ENST00000389266.8:c.1955G>C MANE Select	ENSP00000373918.3:p.Gly652Ala
NM_001316772.1:c.1793G>C	NP_001303701.1:p.Gly598Ala
NM_002047.2:c.1955G>C , LRG_243t1:c.1955G>C	NP_002038.2:p.Gly652Ala
NM_002047.3:c.1955G>C	NP_002038.2:p.Gly652Ala
ENST00000389266.7:c.1955G>C	ENSP00000373918.3:p.Gly652Ala
ENST00000444666.5:c.610G>C	ENSP00000415447.1:n.610G>C
ENST00000444666.6:c.*376G>C	ENSP00000415447.2:n.*376G>C
ENST00000465748.1:n.326G>C
ENST00000465748.2:n.1436G>C
ENST00000470392.2:n.5528G>C
ENST00000485784.1:n.445G>C
ENST00000485784.2:n.4812G>C
ENST00000496643.1:n.334G>C
ENST00000496643.2:n.3755G>C
ENST00000674616.1:c.*1669G>C	ENSP00000502408.1:n.*1669G>C
ENST00000674643.1:c.*1760G>C	ENSP00000501636.1:n.*1760G>C
ENST00000674737.1:c.*1293G>C	ENSP00000502464.1:n.*1293G>C
ENST00000674807.1:c.*228G>C	ENSP00000502814.1:n.*228G>C
ENST00000674815.1:c.1586G>C	ENSP00000502799.1:p.Gly529Ala
ENST00000674851.1:c.1586G>C	ENSP00000502451.1:p.Gly529Ala
ENST00000674969.1:n.3828G>C
ENST00000675051.1:c.1754G>C	ENSP00000502296.1:p.Gly585Ala
ENST00000675529.1:c.*1825G>C	ENSP00000501655.1:n.*1825G>C
ENST00000675587.1:n.2787G>C
ENST00000675651.1:c.1973G>C	ENSP00000502513.1:p.Gly658Ala
ENST00000675693.1:c.1787G>C	ENSP00000502174.1:p.Gly596Ala
ENST00000675810.1:c.1853G>C	ENSP00000502743.1:p.Gly618Ala
ENST00000675859.1:c.*134G>C	ENSP00000502033.1:n.*134G>C
ENST00000675863.1:n.2668G>C
ENST00000675886.1:n.7995G>C
ENST00000676088.1:c.*1897G>C	ENSP00000501884.1:n.*1897G>C
ENST00000676140.1:c.*900G>C	ENSP00000502571.1:n.*900G>C
ENST00000676164.1:c.*1406G>C	ENSP00000501986.1:n.*1406G>C
ENST00000676210.1:c.*1244G>C	ENSP00000502373.1:n.*1244G>C
ENST00000676259.1:c.*1387G>C	ENSP00000501980.1:n.*1387G>C
ENST00000676403.1:c.*40G>C	ENSP00000502681.1:n.*40G>C
XM_006715686.1:c.1586G>C	XP_006715749.1:p.Gly529Ala
XM_006715686.2:c.1586G>C	XP_006715749.1:p.Gly529Ala