Canonical Allele Identifier: CA367138651

Gene: GARS1

Linked Data

• gnomAD v4: 7-30595080-C-A
• MyVariant Identifiers: chr7:g.30634696C>A (hg19) ; chr7:g.30595080C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30595080C>A , CM000669.2:g.30595080C>A	GRCh38
NC_000007.13:g.30634696C>A , CM000669.1:g.30634696C>A	GRCh37
NC_000007.12:g.30601221C>A	NCBI36
NG_007942.1:g.5516C>A , LRG_243:g.5516C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.159C>A MANE Select	ENSP00000373918.3:p.Ser53Arg
ENST00000444666.6:c.159C>A	ENSP00000415447.2:p.Ser53Arg
ENST00000454308.6:c.159C>A	ENSP00000392677.2:p.Ser53Arg
ENST00000470392.2:n.249C>A
ENST00000478124.6:n.222C>A
ENST00000485784.2:n.238C>A
ENST00000674616.1:c.159C>A	ENSP00000502408.1:p.Ser53Arg
ENST00000674643.1:c.159C>A	ENSP00000501636.1:p.Ser53Arg
ENST00000674737.1:c.159C>A	ENSP00000502464.1:p.Ser53Arg
ENST00000674807.1:c.159C>A	ENSP00000502814.1:p.Ser53Arg
ENST00000674815.1:c.-148+128C>A	ENSP00000502799.1:n.-148+128C>A
ENST00000674851.1:c.-183-28C>A	ENSP00000502451.1:n.-183-28C>A
ENST00000674969.1:n.199C>A
ENST00000675051.1:c.22-3716C>A	ENSP00000502296.1:n.22-3716C>A
ENST00000675529.1:c.159C>A	ENSP00000501655.1:p.Ser53Arg
ENST00000675587.1:n.175C>A
ENST00000675651.1:c.159C>A	ENSP00000502513.1:p.Ser53Arg
ENST00000675693.1:c.19-28C>A	ENSP00000502174.1:n.19-28C>A
ENST00000675810.1:c.159C>A	ENSP00000502743.1:p.Ser53Arg
ENST00000675859.1:c.159C>A	ENSP00000502033.1:p.Ser53Arg
ENST00000675863.1:n.167C>A
ENST00000675886.1:n.187C>A
ENST00000676088.1:c.159C>A	ENSP00000501884.1:p.Ser53Arg
ENST00000676140.1:c.159C>A	ENSP00000502571.1:p.Ser53Arg
ENST00000676164.1:c.159C>A	ENSP00000501986.1:p.Ser53Arg
ENST00000676210.1:c.159C>A	ENSP00000502373.1:p.Ser53Arg
ENST00000676259.1:c.159C>A	ENSP00000501980.1:p.Ser53Arg
ENST00000676403.1:c.159C>A	ENSP00000502681.1:p.Ser53Arg
ENST00000389266.7:c.159C>A	ENSP00000373918.3:p.Ser53Arg
ENST00000454308.5:c.159C>A	ENSP00000392677.1:p.Ser53Arg
ENST00000478124.5:n.197C>A
ENST00000627489.1:c.159C>A	ENSP00000485931.1:p.Ser53Arg
NM_001316772.1:c.-4C>A	NP_001303701.1:n.-4C>A
NM_002047.2:c.159C>A , LRG_243t1:c.159C>A	NP_002038.2:p.Ser53Arg
NM_002047.3:c.159C>A	NP_002038.2:p.Ser53Arg
XM_006715686.2:c.-321C>A	XP_006715749.1:n.-321C>A
NM_002047.4:c.159C>A MANE Select	NP_002038.2:p.Ser53Arg