Canonical Allele Identifier: CA367124939

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30651751T>G (hg19) ; chr7:g.30612135T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612135T>G , CM000669.2:g.30612135T>G	GRCh38
NC_000007.13:g.30651751T>G , CM000669.1:g.30651751T>G	GRCh37
NC_000007.12:g.30618276T>G	NCBI36
NG_007942.1:g.22571T>G , LRG_243:g.22571T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.921T>G MANE Select	ENSP00000373918.3:p.Asn307Lys
ENST00000444666.6:c.921T>G	ENSP00000415447.2:p.Asn307Lys
ENST00000470392.2:n.1011T>G
ENST00000478124.6:n.984T>G
ENST00000485784.2:n.1000T>G
ENST00000674616.1:c.*635T>G	ENSP00000502408.1:n.*635T>G
ENST00000674643.1:c.921T>G	ENSP00000501636.1:p.Asn307Lys
ENST00000674734.1:n.1417T>G
ENST00000674737.1:c.*259T>G	ENSP00000502464.1:n.*259T>G
ENST00000674807.1:c.921T>G	ENSP00000502814.1:p.Asn307Lys
ENST00000674815.1:c.552T>G	ENSP00000502799.1:p.Asn184Lys
ENST00000674851.1:c.552T>G	ENSP00000502451.1:p.Asn184Lys
ENST00000674969.1:n.2794T>G
ENST00000675051.1:c.720T>G	ENSP00000502296.1:p.Asn240Lys
ENST00000675529.1:c.*791T>G	ENSP00000501655.1:n.*791T>G
ENST00000675587.1:n.937T>G
ENST00000675651.1:c.921T>G	ENSP00000502513.1:p.Asn307Lys
ENST00000675693.1:c.753T>G	ENSP00000502174.1:p.Asn251Lys
ENST00000675810.1:c.819T>G	ENSP00000502743.1:p.Asn273Lys
ENST00000675859.1:c.921T>G	ENSP00000502033.1:p.Asn307Lys
ENST00000675863.1:n.929T>G
ENST00000675886.1:n.6961T>G
ENST00000676088.1:c.*863T>G	ENSP00000501884.1:n.*863T>G
ENST00000676140.1:c.921T>G	ENSP00000502571.1:p.Asn307Lys
ENST00000676164.1:c.*372T>G	ENSP00000501986.1:n.*372T>G
ENST00000676210.1:c.*210T>G	ENSP00000502373.1:n.*210T>G
ENST00000676259.1:c.*353T>G	ENSP00000501980.1:n.*353T>G
ENST00000676403.1:c.921T>G	ENSP00000502681.1:p.Asn307Lys
ENST00000389266.7:c.921T>G	ENSP00000373918.3:p.Asn307Lys
ENST00000478124.5:n.959T>G
NM_001316772.1:c.759T>G	NP_001303701.1:p.Asn253Lys
NM_002047.2:c.921T>G , LRG_243t1:c.921T>G	NP_002038.2:p.Asn307Lys
NM_002047.3:c.921T>G	NP_002038.2:p.Asn307Lys
XM_006715686.1:c.552T>G	XP_006715749.1:p.Asn184Lys
XM_006715686.2:c.552T>G	XP_006715749.1:p.Asn184Lys
NM_002047.4:c.921T>G MANE Select	NP_002038.2:p.Asn307Lys