Canonical Allele Identifier: CA1697788081

Gene: GARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30595121T= , CM000669.2:g.30595121T=	GRCh38
NC_000007.13:g.30634737T= , CM000669.1:g.30634737T=	GRCh37
NC_000007.12:g.30601262T=	NCBI36
NG_007942.1:g.5557T= , LRG_243:g.5557T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.200T= MANE Select	ENSP00000373918.3:p.Leu67=
ENST00000444666.6:c.200T=	ENSP00000415447.2:p.Leu67=
ENST00000454308.6:c.200T=	ENSP00000392677.2:p.Leu67=
ENST00000470392.2:n.290T=
ENST00000478124.6:n.263T=
ENST00000485784.2:n.279T=
ENST00000674616.1:c.200T=	ENSP00000502408.1:p.Leu67=
ENST00000674643.1:c.200T=	ENSP00000501636.1:p.Leu67=
ENST00000674737.1:c.200T=	ENSP00000502464.1:p.Leu67=
ENST00000674807.1:c.200T=	ENSP00000502814.1:p.Leu67=
ENST00000674815.1:c.-148+169T=	ENSP00000502799.1:n.-148+169T=
ENST00000674851.1:c.-170T=	ENSP00000502451.1:n.-170T=
ENST00000674969.1:n.240T=
ENST00000675051.1:c.22-3675T=	ENSP00000502296.1:n.22-3675T=
ENST00000675529.1:c.200T=	ENSP00000501655.1:p.Leu67=
ENST00000675587.1:n.216T=
ENST00000675651.1:c.200T=	ENSP00000502513.1:p.Leu67=
ENST00000675693.1:c.32T=	ENSP00000502174.1:p.Leu11=
ENST00000675810.1:c.200T=	ENSP00000502743.1:p.Leu67=
ENST00000675859.1:c.200T=	ENSP00000502033.1:p.Leu67=
ENST00000675863.1:n.208T=
ENST00000675886.1:n.228T=
ENST00000676088.1:c.200T=	ENSP00000501884.1:p.Leu67=
ENST00000676140.1:c.200T=	ENSP00000502571.1:p.Leu67=
ENST00000676164.1:c.200T=	ENSP00000501986.1:p.Leu67=
ENST00000676210.1:c.200T=	ENSP00000502373.1:p.Leu67=
ENST00000676259.1:c.200T=	ENSP00000501980.1:p.Leu67=
ENST00000676403.1:c.200T=	ENSP00000502681.1:p.Leu67=
ENST00000389266.7:c.200T=	ENSP00000373918.3:p.Leu67=
ENST00000454308.5:c.200T=	ENSP00000392677.1:p.Leu67=
ENST00000478124.5:n.238T=
ENST00000627489.1:c.200T=	ENSP00000485931.1:p.Leu67=
NM_001316772.1:c.38T=	NP_001303701.1:p.Leu13=
NM_002047.2:c.200T= , LRG_243t1:c.200T=	NP_002038.2:p.Leu67=
NM_002047.3:c.200T=	NP_002038.2:p.Leu67=
XM_006715686.2:c.-280T=	XP_006715749.1:n.-280T=
NM_002047.4:c.200T= MANE Select	NP_002038.2:p.Leu67=