Canonical Allele Identifier: CA4205977

Gene: GARS1

Linked Data

• dbSNP Id: rs756276908
• ExAC: 7:30661102 C / A
• gnomAD v2: 7-30661102-C-A
• gnomAD v4: 7-30621486-C-A
• MyVariant Identifiers: chr7:g.30661102C>A (hg19) ; chr7:g.30621486C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30621486C>A , CM000669.2:g.30621486C>A	GRCh38
NC_000007.13:g.30661102C>A , CM000669.1:g.30661102C>A	GRCh37
NC_000007.12:g.30627627C>A	NCBI36
NG_007942.1:g.31922C>A , LRG_243:g.31922C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1453C>A MANE Select	ENSP00000373918.3:p.Pro485Thr
ENST00000444666.6:c.1453C>A	ENSP00000415447.2:p.Pro485Thr
ENST00000470392.2:n.1543C>A
ENST00000478124.6:n.1516C>A
ENST00000485784.2:n.1532C>A
ENST00000674616.1:c.*1167C>A	ENSP00000502408.1:n.*1167C>A
ENST00000674643.1:c.*553C>A	ENSP00000501636.1:n.*553C>A
ENST00000674734.1:n.1949C>A
ENST00000674737.1:c.*791C>A	ENSP00000502464.1:n.*791C>A
ENST00000674807.1:c.1453C>A	ENSP00000502814.1:p.Pro485Thr
ENST00000674815.1:c.1084C>A	ENSP00000502799.1:p.Pro362Thr
ENST00000674851.1:c.1084C>A	ENSP00000502451.1:p.Pro362Thr
ENST00000674969.1:n.3326C>A
ENST00000675051.1:c.1252C>A	ENSP00000502296.1:p.Pro418Thr
ENST00000675529.1:c.*1323C>A	ENSP00000501655.1:n.*1323C>A
ENST00000675587.1:n.1469C>A
ENST00000675651.1:c.1453C>A	ENSP00000502513.1:p.Pro485Thr
ENST00000675693.1:c.1285C>A	ENSP00000502174.1:p.Pro429Thr
ENST00000675810.1:c.1351C>A	ENSP00000502743.1:p.Pro451Thr
ENST00000675859.1:c.1453C>A	ENSP00000502033.1:p.Pro485Thr
ENST00000675863.1:n.1461C>A
ENST00000675886.1:n.7493C>A
ENST00000676088.1:c.*1395C>A	ENSP00000501884.1:n.*1395C>A
ENST00000676140.1:c.*398C>A	ENSP00000502571.1:n.*398C>A
ENST00000676164.1:c.*904C>A	ENSP00000501986.1:n.*904C>A
ENST00000676210.1:c.*742C>A	ENSP00000502373.1:n.*742C>A
ENST00000676259.1:c.*885C>A	ENSP00000501980.1:n.*885C>A
ENST00000676403.1:c.1453C>A	ENSP00000502681.1:p.Pro485Thr
ENST00000389266.7:c.1453C>A	ENSP00000373918.3:p.Pro485Thr
ENST00000478124.5:n.1491C>A
ENST00000484093.1:n.452C>A
NM_001316772.1:c.1291C>A	NP_001303701.1:p.Pro431Thr
NM_002047.2:c.1453C>A , LRG_243t1:c.1453C>A	NP_002038.2:p.Pro485Thr
NM_002047.3:c.1453C>A	NP_002038.2:p.Pro485Thr
XM_006715686.1:c.1084C>A	XP_006715749.1:p.Pro362Thr
XM_006715686.2:c.1084C>A	XP_006715749.1:p.Pro362Thr
NM_002047.4:c.1453C>A MANE Select	NP_002038.2:p.Pro485Thr