Canonical Allele Identifier: CA4206143

Gene: GARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30632407C>T , CM000669.2:g.30632407C>T	GRCh38
NC_000007.13:g.30672023C>T , CM000669.1:g.30672023C>T	GRCh37
NC_000007.12:g.30638548C>T	NCBI36
NG_007942.1:g.42843C>T , LRG_243:g.42843C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002047.4:c.2064C>T MANE Select	NP_002038.2:p.Asp688=
ENST00000389266.8:c.2064C>T MANE Select	ENSP00000373918.3:p.Asp688=
NM_001316772.1:c.1902C>T	NP_001303701.1:p.Asp634=
NM_002047.2:c.2064C>T , LRG_243t1:c.2064C>T	NP_002038.2:p.Asp688=
NM_002047.3:c.2064C>T	NP_002038.2:p.Asp688=
ENST00000389266.7:c.2064C>T	ENSP00000373918.3:p.Asp688=
ENST00000444666.6:c.*485C>T	ENSP00000415447.2:n.*485C>T
ENST00000465748.1:n.435C>T
ENST00000465748.2:n.1545C>T
ENST00000470392.2:n.5637C>T
ENST00000485784.1:n.554C>T
ENST00000485784.2:n.4921C>T
ENST00000496643.1:n.443C>T
ENST00000496643.2:n.3864C>T
ENST00000674616.1:c.*1778C>T	ENSP00000502408.1:n.*1778C>T
ENST00000674643.1:c.*1869C>T	ENSP00000501636.1:n.*1869C>T
ENST00000674737.1:c.*1402C>T	ENSP00000502464.1:n.*1402C>T
ENST00000674807.1:c.*337C>T	ENSP00000502814.1:n.*337C>T
ENST00000674815.1:c.1695C>T	ENSP00000502799.1:p.Asp565=
ENST00000674851.1:c.1695C>T	ENSP00000502451.1:p.Asp565=
ENST00000674969.1:n.3937C>T
ENST00000675051.1:c.1863C>T	ENSP00000502296.1:p.Asp621=
ENST00000675529.1:c.*1934C>T	ENSP00000501655.1:n.*1934C>T
ENST00000675587.1:n.2896C>T
ENST00000675651.1:c.2082C>T	ENSP00000502513.1:p.Asp694=
ENST00000675693.1:c.1896C>T	ENSP00000502174.1:p.Asp632=
ENST00000675810.1:c.1962C>T	ENSP00000502743.1:p.Asp654=
ENST00000675859.1:c.*243C>T	ENSP00000502033.1:n.*243C>T
ENST00000675863.1:n.2777C>T
ENST00000675886.1:n.8104C>T
ENST00000676088.1:c.*2006C>T	ENSP00000501884.1:n.*2006C>T
ENST00000676140.1:c.*1009C>T	ENSP00000502571.1:n.*1009C>T
ENST00000676164.1:c.*1515C>T	ENSP00000501986.1:n.*1515C>T
ENST00000676210.1:c.*1353C>T	ENSP00000502373.1:n.*1353C>T
ENST00000676259.1:c.*1496C>T	ENSP00000501980.1:n.*1496C>T
ENST00000676403.1:c.*149C>T	ENSP00000502681.1:n.*149C>T
XM_006715686.1:c.1695C>T	XP_006715749.1:p.Asp565=
XM_006715686.2:c.1695C>T	XP_006715749.1:p.Asp565=