Canonical Allele Identifier: CA367128053

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30661039C>A (hg19) ; chr7:g.30621423C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30621423C>A , CM000669.2:g.30621423C>A	GRCh38
NC_000007.13:g.30661039C>A , CM000669.1:g.30661039C>A	GRCh37
NC_000007.12:g.30627564C>A	NCBI36
NG_007942.1:g.31859C>A , LRG_243:g.31859C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1390C>A MANE Select	ENSP00000373918.3:p.Arg464Ser
ENST00000444666.6:c.1390C>A	ENSP00000415447.2:p.Arg464Ser
ENST00000470392.2:n.1480C>A
ENST00000478124.6:n.1453C>A
ENST00000485784.2:n.1469C>A
ENST00000674616.1:c.*1104C>A	ENSP00000502408.1:n.*1104C>A
ENST00000674643.1:c.*490C>A	ENSP00000501636.1:n.*490C>A
ENST00000674734.1:n.1886C>A
ENST00000674737.1:c.*728C>A	ENSP00000502464.1:n.*728C>A
ENST00000674807.1:c.1390C>A	ENSP00000502814.1:p.Arg464Ser
ENST00000674815.1:c.1021C>A	ENSP00000502799.1:p.Arg341Ser
ENST00000674851.1:c.1021C>A	ENSP00000502451.1:p.Arg341Ser
ENST00000674969.1:n.3263C>A
ENST00000675051.1:c.1189C>A	ENSP00000502296.1:p.Arg397Ser
ENST00000675529.1:c.*1260C>A	ENSP00000501655.1:n.*1260C>A
ENST00000675587.1:n.1406C>A
ENST00000675651.1:c.1390C>A	ENSP00000502513.1:p.Arg464Ser
ENST00000675693.1:c.1222C>A	ENSP00000502174.1:p.Arg408Ser
ENST00000675810.1:c.1288C>A	ENSP00000502743.1:p.Arg430Ser
ENST00000675859.1:c.1390C>A	ENSP00000502033.1:p.Arg464Ser
ENST00000675863.1:n.1398C>A
ENST00000675886.1:n.7430C>A
ENST00000676088.1:c.*1332C>A	ENSP00000501884.1:n.*1332C>A
ENST00000676140.1:c.*335C>A	ENSP00000502571.1:n.*335C>A
ENST00000676164.1:c.*841C>A	ENSP00000501986.1:n.*841C>A
ENST00000676210.1:c.*679C>A	ENSP00000502373.1:n.*679C>A
ENST00000676259.1:c.*822C>A	ENSP00000501980.1:n.*822C>A
ENST00000676403.1:c.1390C>A	ENSP00000502681.1:p.Arg464Ser
ENST00000389266.7:c.1390C>A	ENSP00000373918.3:p.Arg464Ser
ENST00000478124.5:n.1428C>A
ENST00000484093.1:n.389C>A
NM_001316772.1:c.1228C>A	NP_001303701.1:p.Arg410Ser
NM_002047.2:c.1390C>A , LRG_243t1:c.1390C>A	NP_002038.2:p.Arg464Ser
NM_002047.3:c.1390C>A	NP_002038.2:p.Arg464Ser
XM_006715686.1:c.1021C>A	XP_006715749.1:p.Arg341Ser
XM_006715686.2:c.1021C>A	XP_006715749.1:p.Arg341Ser
NM_002047.4:c.1390C>A MANE Select	NP_002038.2:p.Arg464Ser