Canonical Allele Identifier: CA367129395

Gene: GARS1

Linked Data

• gnomAD v4: 7-30626282-C-A
• MyVariant Identifiers: chr7:g.30665898C>A (hg19) ; chr7:g.30626282C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30626282C>A , CM000669.2:g.30626282C>A	GRCh38
NC_000007.13:g.30665898C>A , CM000669.1:g.30665898C>A	GRCh37
NC_000007.12:g.30632423C>A	NCBI36
NG_007942.1:g.36718C>A , LRG_243:g.36718C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000389266.8:c.1662C>A MANE Select	ENSP00000373918.3:p.Asp554Glu
ENST00000444666.6:c.1662C>A	ENSP00000415447.2:p.Asp554Glu
ENST00000470392.2:n.1752C>A
ENST00000485784.2:n.1741C>A
ENST00000674616.1:c.*1376C>A	ENSP00000502408.1:n.*1376C>A
ENST00000674643.1:c.*762C>A	ENSP00000501636.1:n.*762C>A
ENST00000674737.1:c.*1000C>A	ENSP00000502464.1:n.*1000C>A
ENST00000674807.1:c.1614-2278C>A	ENSP00000502814.1:n.1614-2278C>A
ENST00000674815.1:c.1293C>A	ENSP00000502799.1:p.Asp431Glu
ENST00000674851.1:c.1293C>A	ENSP00000502451.1:p.Asp431Glu
ENST00000674969.1:n.3535C>A
ENST00000675051.1:c.1461C>A	ENSP00000502296.1:p.Asp487Glu
ENST00000675529.1:c.*1532C>A	ENSP00000501655.1:n.*1532C>A
ENST00000675587.1:n.2494C>A
ENST00000675651.1:c.1662C>A	ENSP00000502513.1:p.Asp554Glu
ENST00000675693.1:c.1494C>A	ENSP00000502174.1:p.Asp498Glu
ENST00000675810.1:c.1560C>A	ENSP00000502743.1:p.Asp520Glu
ENST00000675859.1:c.1614-2278C>A	ENSP00000502033.1:n.1614-2278C>A
ENST00000675863.1:n.1670C>A
ENST00000675886.1:n.7702C>A
ENST00000676088.1:c.*1604C>A	ENSP00000501884.1:n.*1604C>A
ENST00000676140.1:c.*607C>A	ENSP00000502571.1:n.*607C>A
ENST00000676164.1:c.*1113C>A	ENSP00000501986.1:n.*1113C>A
ENST00000676210.1:c.*951C>A	ENSP00000502373.1:n.*951C>A
ENST00000676259.1:c.*1094C>A	ENSP00000501980.1:n.*1094C>A
ENST00000676403.1:c.1662C>A	ENSP00000502681.1:p.Asp554Glu
ENST00000389266.7:c.1662C>A	ENSP00000373918.3:p.Asp554Glu
ENST00000444666.5:c.183C>A	ENSP00000415447.1:p.Asp61Glu
ENST00000470392.1:n.384C>A
NM_001316772.1:c.1500C>A	NP_001303701.1:p.Asp500Glu
NM_002047.2:c.1662C>A , LRG_243t1:c.1662C>A	NP_002038.2:p.Asp554Glu
NM_002047.3:c.1662C>A	NP_002038.2:p.Asp554Glu
XM_006715686.1:c.1293C>A	XP_006715749.1:p.Asp431Glu
XM_006715686.2:c.1293C>A	XP_006715749.1:p.Asp431Glu
NM_002047.4:c.1662C>A MANE Select	NP_002038.2:p.Asp554Glu