Canonical Allele Identifier: CA1697807653

Gene: GARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609667C= , CM000669.2:g.30609667C=	GRCh38
NC_000007.13:g.30649283C= , CM000669.1:g.30649283C=	GRCh37
NC_000007.12:g.30615808C=	NCBI36
NG_007942.1:g.20103C= , LRG_243:g.20103C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.818C= MANE Select	ENSP00000373918.3:p.Ser273=
ENST00000444666.6:c.818C=	ENSP00000415447.2:p.Ser273=
ENST00000470392.2:n.908C=
ENST00000478124.6:n.881C=
ENST00000485784.2:n.897C=
ENST00000674616.1:c.*532C=	ENSP00000502408.1:n.*532C=
ENST00000674643.1:c.818C=	ENSP00000501636.1:p.Ser273=
ENST00000674734.1:n.1314C=
ENST00000674737.1:c.*156C=	ENSP00000502464.1:n.*156C=
ENST00000674807.1:c.818C=	ENSP00000502814.1:p.Ser273=
ENST00000674815.1:c.449C=	ENSP00000502799.1:p.Ser150=
ENST00000674851.1:c.449C=	ENSP00000502451.1:p.Ser150=
ENST00000674969.1:n.2691C=
ENST00000675051.1:c.617C=	ENSP00000502296.1:p.Ser206=
ENST00000675529.1:c.*688C=	ENSP00000501655.1:n.*688C=
ENST00000675587.1:n.834C=
ENST00000675651.1:c.818C=	ENSP00000502513.1:p.Ser273=
ENST00000675693.1:c.650C=	ENSP00000502174.1:p.Ser217=
ENST00000675810.1:c.716C=	ENSP00000502743.1:p.Ser239=
ENST00000675859.1:c.818C=	ENSP00000502033.1:p.Ser273=
ENST00000675863.1:n.826C=
ENST00000675886.1:n.6858C=
ENST00000676088.1:c.*760C=	ENSP00000501884.1:n.*760C=
ENST00000676140.1:c.818C=	ENSP00000502571.1:p.Ser273=
ENST00000676164.1:c.*269C=	ENSP00000501986.1:n.*269C=
ENST00000676210.1:c.*107C=	ENSP00000502373.1:n.*107C=
ENST00000676259.1:c.*250C=	ENSP00000501980.1:n.*250C=
ENST00000676403.1:c.818C=	ENSP00000502681.1:p.Ser273=
ENST00000389266.7:c.818C=	ENSP00000373918.3:p.Ser273=
ENST00000478124.5:n.856C=
NM_001316772.1:c.656C=	NP_001303701.1:p.Ser219=
NM_002047.2:c.818C= , LRG_243t1:c.818C=	NP_002038.2:p.Ser273=
NM_002047.3:c.818C=	NP_002038.2:p.Ser273=
XM_006715686.1:c.449C=	XP_006715749.1:p.Ser150=
XM_006715686.2:c.449C=	XP_006715749.1:p.Ser150=
NM_002047.4:c.818C= MANE Select	NP_002038.2:p.Ser273=