Canonical Allele Identifier: CA4205815
Gene: GARS HGNC NCBI

Linked Data

ClinVar Variation Id: 258538
dbSNP Id: rs7808770

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30609596T>C , CM000669.2:g.30609596T>C GRCh38
NC_000007.13:g.30649212T>C , CM000669.1:g.30649212T>C GRCh37
NC_000007.12:g.30615737T>C NCBI36
NG_007942.1:g.20032T>C , LRG_243:g.20032T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000389266.8:c.747T>C MANE Select ENSP00000373918.3:p.Tyr249=
ENST00000444666.6:c.747T>C ENSP00000415447.2:p.Tyr249=
ENST00000470392.2:n.837T>C
ENST00000478124.6:n.810T>C
ENST00000485784.2:n.826T>C
ENST00000674616.1:c.*461T>C ENSP00000502408.1:p.=
ENST00000674643.1:c.747T>C ENSP00000501636.1:p.Tyr249=
ENST00000674734.1:n.1243T>C
ENST00000674737.1:c.*85T>C ENSP00000502464.1:p.=
ENST00000674807.1:c.747T>C ENSP00000502814.1:p.Tyr249=
ENST00000674815.1:c.378T>C ENSP00000502799.1:p.Tyr126=
ENST00000674851.1:c.378T>C ENSP00000502451.1:p.Tyr126=
ENST00000674969.1:n.2620T>C
ENST00000675051.1:c.546T>C ENSP00000502296.1:p.Tyr182=
ENST00000675529.1:c.*617T>C ENSP00000501655.1:p.=
ENST00000675587.1:n.763T>C
ENST00000675651.1:c.747T>C ENSP00000502513.1:p.Tyr249=
ENST00000675693.1:c.579T>C ENSP00000502174.1:p.Tyr193=
ENST00000675810.1:c.645T>C ENSP00000502743.1:p.Tyr215=
ENST00000675859.1:c.747T>C ENSP00000502033.1:p.Tyr249=
ENST00000675863.1:n.755T>C
ENST00000675886.1:n.6787T>C
ENST00000676088.1:c.*689T>C ENSP00000501884.1:p.=
ENST00000676140.1:c.747T>C ENSP00000502571.1:p.Tyr249=
ENST00000676164.1:c.*198T>C ENSP00000501986.1:p.=
ENST00000676210.1:c.*36T>C ENSP00000502373.1:p.=
ENST00000676259.1:c.*179T>C ENSP00000501980.1:p.=
ENST00000676403.1:c.747T>C ENSP00000502681.1:p.Tyr249=
ENST00000389266.7:c.747T>C ENSP00000373918.3:p.Tyr249=
ENST00000478124.5:n.785T>C
NM_001316772.1:c.585T>C NP_001303701.1:p.Tyr195=
NM_002047.2:c.747T>C , LRG_243t1:c.747T>C NP_002038.2:p.Tyr249=
NM_002047.3:c.747T>C NP_002038.2:p.Tyr249=
XM_006715686.1:c.378T>C XP_006715749.1:p.Tyr126=
XM_006715686.2:c.378T>C XP_006715749.1:p.Tyr126=
NM_002047.4:c.747T>C MANE Select NP_002038.2:p.Tyr249=