Canonical Allele Identifier: CA367124600

Gene: GARS1

Linked Data

• dbSNP Id: rs1584032284
• gnomAD v4: 7-30609696-A-C
• MyVariant Identifiers: chr7:g.30649312A>C (hg19) ; chr7:g.30609696A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609696A>C , CM000669.2:g.30609696A>C	GRCh38
NC_000007.13:g.30649312A>C , CM000669.1:g.30649312A>C	GRCh37
NC_000007.12:g.30615837A>C	NCBI36
NG_007942.1:g.20132A>C , LRG_243:g.20132A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.847A>C MANE Select	ENSP00000373918.3:p.Lys283Gln
ENST00000444666.6:c.847A>C	ENSP00000415447.2:p.Lys283Gln
ENST00000470392.2:n.937A>C
ENST00000478124.6:n.910A>C
ENST00000485784.2:n.926A>C
ENST00000674616.1:c.*561A>C	ENSP00000502408.1:n.*561A>C
ENST00000674643.1:c.847A>C	ENSP00000501636.1:p.Lys283Gln
ENST00000674734.1:n.1343A>C
ENST00000674737.1:c.*185A>C	ENSP00000502464.1:n.*185A>C
ENST00000674807.1:c.847A>C	ENSP00000502814.1:p.Lys283Gln
ENST00000674815.1:c.478A>C	ENSP00000502799.1:p.Lys160Gln
ENST00000674851.1:c.478A>C	ENSP00000502451.1:p.Lys160Gln
ENST00000674969.1:n.2720A>C
ENST00000675051.1:c.646A>C	ENSP00000502296.1:p.Lys216Gln
ENST00000675529.1:c.*717A>C	ENSP00000501655.1:n.*717A>C
ENST00000675587.1:n.863A>C
ENST00000675651.1:c.847A>C	ENSP00000502513.1:p.Lys283Gln
ENST00000675693.1:c.679A>C	ENSP00000502174.1:p.Lys227Gln
ENST00000675810.1:c.745A>C	ENSP00000502743.1:p.Lys249Gln
ENST00000675859.1:c.847A>C	ENSP00000502033.1:p.Lys283Gln
ENST00000675863.1:n.855A>C
ENST00000675886.1:n.6887A>C
ENST00000676088.1:c.*789A>C	ENSP00000501884.1:n.*789A>C
ENST00000676140.1:c.847A>C	ENSP00000502571.1:p.Lys283Gln
ENST00000676164.1:c.*298A>C	ENSP00000501986.1:n.*298A>C
ENST00000676210.1:c.*136A>C	ENSP00000502373.1:n.*136A>C
ENST00000676259.1:c.*279A>C	ENSP00000501980.1:n.*279A>C
ENST00000676403.1:c.847A>C	ENSP00000502681.1:p.Lys283Gln
ENST00000389266.7:c.847A>C	ENSP00000373918.3:p.Lys283Gln
ENST00000478124.5:n.885A>C
NM_001316772.1:c.685A>C	NP_001303701.1:p.Lys229Gln
NM_002047.2:c.847A>C , LRG_243t1:c.847A>C	NP_002038.2:p.Lys283Gln
NM_002047.3:c.847A>C	NP_002038.2:p.Lys283Gln
XM_006715686.1:c.478A>C	XP_006715749.1:p.Lys160Gln
XM_006715686.2:c.478A>C	XP_006715749.1:p.Lys160Gln
NM_002047.4:c.847A>C MANE Select	NP_002038.2:p.Lys283Gln