Canonical Allele Identifier: CA367129412

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30665905A>T (hg19) ; chr7:g.30626289A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30626289A>T , CM000669.2:g.30626289A>T	GRCh38
NC_000007.13:g.30665905A>T , CM000669.1:g.30665905A>T	GRCh37
NC_000007.12:g.30632430A>T	NCBI36
NG_007942.1:g.36725A>T , LRG_243:g.36725A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389266.8:c.1669A>T MANE Select	ENSP00000373918.3:p.Asn557Tyr
ENST00000444666.6:c.1669A>T	ENSP00000415447.2:p.Asn557Tyr
ENST00000470392.2:n.1759A>T
ENST00000485784.2:n.1748A>T
ENST00000674616.1:c.*1383A>T	ENSP00000502408.1:n.*1383A>T
ENST00000674643.1:c.*769A>T	ENSP00000501636.1:n.*769A>T
ENST00000674737.1:c.*1007A>T	ENSP00000502464.1:n.*1007A>T
ENST00000674807.1:c.1614-2271A>T	ENSP00000502814.1:n.1614-2271A>T
ENST00000674815.1:c.1300A>T	ENSP00000502799.1:p.Asn434Tyr
ENST00000674851.1:c.1300A>T	ENSP00000502451.1:p.Asn434Tyr
ENST00000674969.1:n.3542A>T
ENST00000675051.1:c.1468A>T	ENSP00000502296.1:p.Asn490Tyr
ENST00000675529.1:c.*1539A>T	ENSP00000501655.1:n.*1539A>T
ENST00000675587.1:n.2501A>T
ENST00000675651.1:c.1669A>T	ENSP00000502513.1:p.Asn557Tyr
ENST00000675693.1:c.1501A>T	ENSP00000502174.1:p.Asn501Tyr
ENST00000675810.1:c.1567A>T	ENSP00000502743.1:p.Asn523Tyr
ENST00000675859.1:c.1614-2271A>T	ENSP00000502033.1:n.1614-2271A>T
ENST00000675863.1:n.1677A>T
ENST00000675886.1:n.7709A>T
ENST00000676088.1:c.*1611A>T	ENSP00000501884.1:n.*1611A>T
ENST00000676140.1:c.*614A>T	ENSP00000502571.1:n.*614A>T
ENST00000676164.1:c.*1120A>T	ENSP00000501986.1:n.*1120A>T
ENST00000676210.1:c.*958A>T	ENSP00000502373.1:n.*958A>T
ENST00000676259.1:c.*1101A>T	ENSP00000501980.1:n.*1101A>T
ENST00000676403.1:c.1669A>T	ENSP00000502681.1:p.Asn557Tyr
ENST00000389266.7:c.1669A>T	ENSP00000373918.3:p.Asn557Tyr
ENST00000444666.5:c.190A>T	ENSP00000415447.1:p.Asn64Tyr
ENST00000470392.1:n.391A>T
NM_001316772.1:c.1507A>T	NP_001303701.1:p.Asn503Tyr
NM_002047.2:c.1669A>T , LRG_243t1:c.1669A>T	NP_002038.2:p.Asn557Tyr
NM_002047.3:c.1669A>T	NP_002038.2:p.Asn557Tyr
XM_006715686.1:c.1300A>T	XP_006715749.1:p.Asn434Tyr
XM_006715686.2:c.1300A>T	XP_006715749.1:p.Asn434Tyr
NM_002047.4:c.1669A>T MANE Select	NP_002038.2:p.Asn557Tyr