Canonical Allele Identifier: CA367129482

Gene: GARS1

Linked Data

• gnomAD v4: 7-30626319-G-A
• MyVariant Identifiers: chr7:g.30665935G>A (hg19) ; chr7:g.30626319G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30626319G>A , CM000669.2:g.30626319G>A	GRCh38
NC_000007.13:g.30665935G>A , CM000669.1:g.30665935G>A	GRCh37
NC_000007.12:g.30632460G>A	NCBI36
NG_007942.1:g.36755G>A , LRG_243:g.36755G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1699G>A MANE Select	ENSP00000373918.3:p.Val567Met
ENST00000444666.6:c.1699G>A	ENSP00000415447.2:p.Glu567Lys
ENST00000470392.2:n.1789G>A
ENST00000485784.2:n.1778G>A
ENST00000674616.1:c.*1413G>A	ENSP00000502408.1:n.*1413G>A
ENST00000674643.1:c.*799G>A	ENSP00000501636.1:n.*799G>A
ENST00000674737.1:c.*1037G>A	ENSP00000502464.1:n.*1037G>A
ENST00000674807.1:c.1614-2241G>A	ENSP00000502814.1:n.1614-2241G>A
ENST00000674815.1:c.1330G>A	ENSP00000502799.1:p.Val444Met
ENST00000674851.1:c.1330G>A	ENSP00000502451.1:p.Val444Met
ENST00000674969.1:n.3572G>A
ENST00000675051.1:c.1498G>A	ENSP00000502296.1:p.Val500Met
ENST00000675529.1:c.*1569G>A	ENSP00000501655.1:n.*1569G>A
ENST00000675587.1:n.2531G>A
ENST00000675651.1:c.1699G>A	ENSP00000502513.1:p.Val567Met
ENST00000675693.1:c.1531G>A	ENSP00000502174.1:p.Val511Met
ENST00000675810.1:c.1597G>A	ENSP00000502743.1:p.Val533Met
ENST00000675859.1:c.1614-2241G>A	ENSP00000502033.1:n.1614-2241G>A
ENST00000675863.1:n.1707G>A
ENST00000675886.1:n.7739G>A
ENST00000676088.1:c.*1641G>A	ENSP00000501884.1:n.*1641G>A
ENST00000676140.1:c.*644G>A	ENSP00000502571.1:n.*644G>A
ENST00000676164.1:c.*1150G>A	ENSP00000501986.1:n.*1150G>A
ENST00000676210.1:c.*988G>A	ENSP00000502373.1:n.*988G>A
ENST00000676259.1:c.*1131G>A	ENSP00000501980.1:n.*1131G>A
ENST00000676403.1:c.1699G>A	ENSP00000502681.1:p.Val567Met
ENST00000389266.7:c.1699G>A	ENSP00000373918.3:p.Val567Met
ENST00000444666.5:c.220G>A	ENSP00000415447.1:p.Glu74Lys
ENST00000470392.1:n.421G>A
NM_001316772.1:c.1537G>A	NP_001303701.1:p.Val513Met
NM_002047.2:c.1699G>A , LRG_243t1:c.1699G>A	NP_002038.2:p.Val567Met
NM_002047.3:c.1699G>A	NP_002038.2:p.Val567Met
XM_006715686.1:c.1330G>A	XP_006715749.1:p.Val444Met
XM_006715686.2:c.1330G>A	XP_006715749.1:p.Val444Met
NM_002047.4:c.1699G>A MANE Select	NP_002038.2:p.Val567Met