Canonical Allele Identifier: CA367124525

Gene: GARS1

Linked Data

• COSMIC: COSM3663149
• MyVariant Identifiers: chr7:g.30649295C>T (hg19) ; chr7:g.30609679C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609679C>T , CM000669.2:g.30609679C>T	GRCh38
NC_000007.13:g.30649295C>T , CM000669.1:g.30649295C>T	GRCh37
NC_000007.12:g.30615820C>T	NCBI36
NG_007942.1:g.20115C>T , LRG_243:g.20115C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.830C>T MANE Select	ENSP00000373918.3:p.Ser277Phe
ENST00000444666.6:c.830C>T	ENSP00000415447.2:p.Ser277Phe
ENST00000470392.2:n.920C>T
ENST00000478124.6:n.893C>T
ENST00000485784.2:n.909C>T
ENST00000674616.1:c.*544C>T	ENSP00000502408.1:n.*544C>T
ENST00000674643.1:c.830C>T	ENSP00000501636.1:p.Ser277Phe
ENST00000674734.1:n.1326C>T
ENST00000674737.1:c.*168C>T	ENSP00000502464.1:n.*168C>T
ENST00000674807.1:c.830C>T	ENSP00000502814.1:p.Ser277Phe
ENST00000674815.1:c.461C>T	ENSP00000502799.1:p.Ser154Phe
ENST00000674851.1:c.461C>T	ENSP00000502451.1:p.Ser154Phe
ENST00000674969.1:n.2703C>T
ENST00000675051.1:c.629C>T	ENSP00000502296.1:p.Ser210Phe
ENST00000675529.1:c.*700C>T	ENSP00000501655.1:n.*700C>T
ENST00000675587.1:n.846C>T
ENST00000675651.1:c.830C>T	ENSP00000502513.1:p.Ser277Phe
ENST00000675693.1:c.662C>T	ENSP00000502174.1:p.Ser221Phe
ENST00000675810.1:c.728C>T	ENSP00000502743.1:p.Ser243Phe
ENST00000675859.1:c.830C>T	ENSP00000502033.1:p.Ser277Phe
ENST00000675863.1:n.838C>T
ENST00000675886.1:n.6870C>T
ENST00000676088.1:c.*772C>T	ENSP00000501884.1:n.*772C>T
ENST00000676140.1:c.830C>T	ENSP00000502571.1:p.Ser277Phe
ENST00000676164.1:c.*281C>T	ENSP00000501986.1:n.*281C>T
ENST00000676210.1:c.*119C>T	ENSP00000502373.1:n.*119C>T
ENST00000676259.1:c.*262C>T	ENSP00000501980.1:n.*262C>T
ENST00000676403.1:c.830C>T	ENSP00000502681.1:p.Ser277Phe
ENST00000389266.7:c.830C>T	ENSP00000373918.3:p.Ser277Phe
ENST00000478124.5:n.868C>T
NM_001316772.1:c.668C>T	NP_001303701.1:p.Ser223Phe
NM_002047.2:c.830C>T , LRG_243t1:c.830C>T	NP_002038.2:p.Ser277Phe
NM_002047.3:c.830C>T	NP_002038.2:p.Ser277Phe
XM_006715686.1:c.461C>T	XP_006715749.1:p.Ser154Phe
XM_006715686.2:c.461C>T	XP_006715749.1:p.Ser154Phe
NM_002047.4:c.830C>T MANE Select	NP_002038.2:p.Ser277Phe