Canonical Allele Identifier: CA1697811092

Gene: GARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612148T= , CM000669.2:g.30612148T=	GRCh38
NC_000007.13:g.30651764T= , CM000669.1:g.30651764T=	GRCh37
NC_000007.12:g.30618289T=	NCBI36
NG_007942.1:g.22584T= , LRG_243:g.22584T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.934T= MANE Select	ENSP00000373918.3:p.Leu312=
ENST00000444666.6:c.934T=	ENSP00000415447.2:p.Leu312=
ENST00000470392.2:n.1024T=
ENST00000478124.6:n.997T=
ENST00000485784.2:n.1013T=
ENST00000674616.1:c.*648T=	ENSP00000502408.1:n.*648T=
ENST00000674643.1:c.934T=	ENSP00000501636.1:p.Leu312=
ENST00000674734.1:n.1430T=
ENST00000674737.1:c.*272T=	ENSP00000502464.1:n.*272T=
ENST00000674807.1:c.934T=	ENSP00000502814.1:p.Leu312=
ENST00000674815.1:c.565T=	ENSP00000502799.1:p.Leu189=
ENST00000674851.1:c.565T=	ENSP00000502451.1:p.Leu189=
ENST00000674969.1:n.2807T=
ENST00000675051.1:c.733T=	ENSP00000502296.1:p.Leu245=
ENST00000675529.1:c.*804T=	ENSP00000501655.1:n.*804T=
ENST00000675587.1:n.950T=
ENST00000675651.1:c.934T=	ENSP00000502513.1:p.Leu312=
ENST00000675693.1:c.766T=	ENSP00000502174.1:p.Leu256=
ENST00000675810.1:c.832T=	ENSP00000502743.1:p.Leu278=
ENST00000675859.1:c.934T=	ENSP00000502033.1:p.Leu312=
ENST00000675863.1:n.942T=
ENST00000675886.1:n.6974T=
ENST00000676088.1:c.*876T=	ENSP00000501884.1:n.*876T=
ENST00000676140.1:c.934T=	ENSP00000502571.1:p.Leu312=
ENST00000676164.1:c.*385T=	ENSP00000501986.1:n.*385T=
ENST00000676210.1:c.*223T=	ENSP00000502373.1:n.*223T=
ENST00000676259.1:c.*366T=	ENSP00000501980.1:n.*366T=
ENST00000676403.1:c.934T=	ENSP00000502681.1:p.Leu312=
ENST00000389266.7:c.934T=	ENSP00000373918.3:p.Leu312=
ENST00000478124.5:n.972T=
NM_001316772.1:c.772T=	NP_001303701.1:p.Leu258=
NM_002047.2:c.934T= , LRG_243t1:c.934T=	NP_002038.2:p.Leu312=
NM_002047.3:c.934T=	NP_002038.2:p.Leu312=
XM_006715686.1:c.565T=	XP_006715749.1:p.Leu189=
XM_006715686.2:c.565T=	XP_006715749.1:p.Leu189=
NM_002047.4:c.934T= MANE Select	NP_002038.2:p.Leu312=