Canonical Allele Identifier: CA454246790

Gene: GARS1

Linked Data

• ClinVar Variation Id: 1092319
• ClinVar RCV Id: RCV001412086
• dbSNP Id: rs2128133721
• MyVariant Identifiers: chr7:g.30649245C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609629C>T , CM000669.2:g.30609629C>T	GRCh38
NC_000007.13:g.30649245C>T , CM000669.1:g.30649245C>T	GRCh37
NC_000007.12:g.30615770C>T	NCBI36
NG_007942.1:g.20065C>T , LRG_243:g.20065C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.780C>T MANE Select	ENSP00000373918.3:p.Asn260=
ENST00000444666.6:c.780C>T	ENSP00000415447.2:p.Asn260=
ENST00000470392.2:n.870C>T
ENST00000478124.6:n.843C>T
ENST00000485784.2:n.859C>T
ENST00000674616.1:c.*494C>T	ENSP00000502408.1:n.*494C>T
ENST00000674643.1:c.780C>T	ENSP00000501636.1:p.Asn260=
ENST00000674734.1:n.1276C>T
ENST00000674737.1:c.*118C>T	ENSP00000502464.1:n.*118C>T
ENST00000674807.1:c.780C>T	ENSP00000502814.1:p.Asn260=
ENST00000674815.1:c.411C>T	ENSP00000502799.1:p.Asn137=
ENST00000674851.1:c.411C>T	ENSP00000502451.1:p.Asn137=
ENST00000674969.1:n.2653C>T
ENST00000675051.1:c.579C>T	ENSP00000502296.1:p.Asn193=
ENST00000675529.1:c.*650C>T	ENSP00000501655.1:n.*650C>T
ENST00000675587.1:n.796C>T
ENST00000675651.1:c.780C>T	ENSP00000502513.1:p.Asn260=
ENST00000675693.1:c.612C>T	ENSP00000502174.1:p.Asn204=
ENST00000675810.1:c.678C>T	ENSP00000502743.1:p.Asn226=
ENST00000675859.1:c.780C>T	ENSP00000502033.1:p.Asn260=
ENST00000675863.1:n.788C>T
ENST00000675886.1:n.6820C>T
ENST00000676088.1:c.*722C>T	ENSP00000501884.1:n.*722C>T
ENST00000676140.1:c.780C>T	ENSP00000502571.1:p.Asn260=
ENST00000676164.1:c.*231C>T	ENSP00000501986.1:n.*231C>T
ENST00000676210.1:c.*69C>T	ENSP00000502373.1:n.*69C>T
ENST00000676259.1:c.*212C>T	ENSP00000501980.1:n.*212C>T
ENST00000676403.1:c.780C>T	ENSP00000502681.1:p.Asn260=
ENST00000389266.7:c.780C>T	ENSP00000373918.3:p.Asn260=
ENST00000478124.5:n.818C>T
NM_001316772.1:c.618C>T	NP_001303701.1:p.Asn206=
NM_002047.2:c.780C>T , LRG_243t1:c.780C>T	NP_002038.2:p.Asn260=
NM_002047.3:c.780C>T	NP_002038.2:p.Asn260=
XM_006715686.1:c.411C>T	XP_006715749.1:p.Asn137=
XM_006715686.2:c.411C>T	XP_006715749.1:p.Asn137=
NM_002047.4:c.780C>T MANE Select	NP_002038.2:p.Asn260=