Canonical Allele Identifier: CA367129391

Gene: GARS1

Linked Data

• gnomAD v4: 7-30626280-G-T
• MyVariant Identifiers: chr7:g.30665896G>T (hg19) ; chr7:g.30626280G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30626280G>T , CM000669.2:g.30626280G>T	GRCh38
NC_000007.13:g.30665896G>T , CM000669.1:g.30665896G>T	GRCh37
NC_000007.12:g.30632421G>T	NCBI36
NG_007942.1:g.36716G>T , LRG_243:g.36716G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389266.8:c.1660G>T MANE Select	ENSP00000373918.3:p.Asp554Tyr
ENST00000444666.6:c.1660G>T	ENSP00000415447.2:p.Asp554Tyr
ENST00000470392.2:n.1750G>T
ENST00000485784.2:n.1739G>T
ENST00000674616.1:c.*1374G>T	ENSP00000502408.1:n.*1374G>T
ENST00000674643.1:c.*760G>T	ENSP00000501636.1:n.*760G>T
ENST00000674737.1:c.*998G>T	ENSP00000502464.1:n.*998G>T
ENST00000674807.1:c.1614-2280G>T	ENSP00000502814.1:n.1614-2280G>T
ENST00000674815.1:c.1291G>T	ENSP00000502799.1:p.Asp431Tyr
ENST00000674851.1:c.1291G>T	ENSP00000502451.1:p.Asp431Tyr
ENST00000674969.1:n.3533G>T
ENST00000675051.1:c.1459G>T	ENSP00000502296.1:p.Asp487Tyr
ENST00000675529.1:c.*1530G>T	ENSP00000501655.1:n.*1530G>T
ENST00000675587.1:n.2492G>T
ENST00000675651.1:c.1660G>T	ENSP00000502513.1:p.Asp554Tyr
ENST00000675693.1:c.1492G>T	ENSP00000502174.1:p.Asp498Tyr
ENST00000675810.1:c.1558G>T	ENSP00000502743.1:p.Asp520Tyr
ENST00000675859.1:c.1614-2280G>T	ENSP00000502033.1:n.1614-2280G>T
ENST00000675863.1:n.1668G>T
ENST00000675886.1:n.7700G>T
ENST00000676088.1:c.*1602G>T	ENSP00000501884.1:n.*1602G>T
ENST00000676140.1:c.*605G>T	ENSP00000502571.1:n.*605G>T
ENST00000676164.1:c.*1111G>T	ENSP00000501986.1:n.*1111G>T
ENST00000676210.1:c.*949G>T	ENSP00000502373.1:n.*949G>T
ENST00000676259.1:c.*1092G>T	ENSP00000501980.1:n.*1092G>T
ENST00000676403.1:c.1660G>T	ENSP00000502681.1:p.Asp554Tyr
ENST00000389266.7:c.1660G>T	ENSP00000373918.3:p.Asp554Tyr
ENST00000444666.5:c.181G>T	ENSP00000415447.1:p.Asp61Tyr
ENST00000470392.1:n.382G>T
NM_001316772.1:c.1498G>T	NP_001303701.1:p.Asp500Tyr
NM_002047.2:c.1660G>T , LRG_243t1:c.1660G>T	NP_002038.2:p.Asp554Tyr
NM_002047.3:c.1660G>T	NP_002038.2:p.Asp554Tyr
XM_006715686.1:c.1291G>T	XP_006715749.1:p.Asp431Tyr
XM_006715686.2:c.1291G>T	XP_006715749.1:p.Asp431Tyr
NM_002047.4:c.1660G>T MANE Select	NP_002038.2:p.Asp554Tyr