Canonical Allele Identifier: CA1697807459

Gene: GARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609605A= , CM000669.2:g.30609605A=	GRCh38
NC_000007.13:g.30649221A= , CM000669.1:g.30649221A=	GRCh37
NC_000007.12:g.30615746A=	NCBI36
NG_007942.1:g.20041A= , LRG_243:g.20041A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000389266.8:c.756A= MANE Select	ENSP00000373918.3:p.Gln252=
ENST00000444666.6:c.756A=	ENSP00000415447.2:p.Gln252=
ENST00000470392.2:n.846A=
ENST00000478124.6:n.819A=
ENST00000485784.2:n.835A=
ENST00000674616.1:c.*470A=	ENSP00000502408.1:n.*470A=
ENST00000674643.1:c.756A=	ENSP00000501636.1:p.Gln252=
ENST00000674734.1:n.1252A=
ENST00000674737.1:c.*94A=	ENSP00000502464.1:n.*94A=
ENST00000674807.1:c.756A=	ENSP00000502814.1:p.Gln252=
ENST00000674815.1:c.387A=	ENSP00000502799.1:p.Gln129=
ENST00000674851.1:c.387A=	ENSP00000502451.1:p.Gln129=
ENST00000674969.1:n.2629A=
ENST00000675051.1:c.555A=	ENSP00000502296.1:p.Gln185=
ENST00000675529.1:c.*626A=	ENSP00000501655.1:n.*626A=
ENST00000675587.1:n.772A=
ENST00000675651.1:c.756A=	ENSP00000502513.1:p.Gln252=
ENST00000675693.1:c.588A=	ENSP00000502174.1:p.Gln196=
ENST00000675810.1:c.654A=	ENSP00000502743.1:p.Gln218=
ENST00000675859.1:c.756A=	ENSP00000502033.1:p.Gln252=
ENST00000675863.1:n.764A=
ENST00000675886.1:n.6796A=
ENST00000676088.1:c.*698A=	ENSP00000501884.1:n.*698A=
ENST00000676140.1:c.756A=	ENSP00000502571.1:p.Gln252=
ENST00000676164.1:c.*207A=	ENSP00000501986.1:n.*207A=
ENST00000676210.1:c.*45A=	ENSP00000502373.1:n.*45A=
ENST00000676259.1:c.*188A=	ENSP00000501980.1:n.*188A=
ENST00000676403.1:c.756A=	ENSP00000502681.1:p.Gln252=
ENST00000389266.7:c.756A=	ENSP00000373918.3:p.Gln252=
ENST00000478124.5:n.794A=
NM_001316772.1:c.594A=	NP_001303701.1:p.Gln198=
NM_002047.2:c.756A= , LRG_243t1:c.756A=	NP_002038.2:p.Gln252=
NM_002047.3:c.756A=	NP_002038.2:p.Gln252=
XM_006715686.1:c.387A=	XP_006715749.1:p.Gln129=
XM_006715686.2:c.387A=	XP_006715749.1:p.Gln129=
NM_002047.4:c.756A= MANE Select	NP_002038.2:p.Gln252=