Canonical Allele Identifier: CA16612091
Gene: GARS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 410314
ClinVar RCV Id: RCV000459084 RCV000664213 RCV000789777 RCV000790256
dbSNP Id: rs1060502838
gnomAD v4: 7-30621448-A-G
MyVariant Identifiers: chr7:g.30661064A>G (hg19) chr7:g.30621448A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30621448A>G , CM000669.2:g.30621448A>G GRCh38
NC_000007.13:g.30661064A>G , CM000669.1:g.30661064A>G GRCh37
NC_000007.12:g.30627589A>G NCBI36
NG_007942.1:g.31884A>G , LRG_243:g.31884A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000389266.8:c.1415A>G MANE Select ENSP00000373918.3:p.His472Arg
ENST00000444666.6:c.1415A>G ENSP00000415447.2:p.His472Arg
ENST00000470392.2:n.1505A>G
ENST00000478124.6:n.1478A>G
ENST00000485784.2:n.1494A>G
ENST00000674616.1:c.*1129A>G ENSP00000502408.1:n.*1129A>G
ENST00000674643.1:c.*515A>G ENSP00000501636.1:n.*515A>G
ENST00000674734.1:n.1911A>G
ENST00000674737.1:c.*753A>G ENSP00000502464.1:n.*753A>G
ENST00000674807.1:c.1415A>G ENSP00000502814.1:p.His472Arg
ENST00000674815.1:c.1046A>G ENSP00000502799.1:p.His349Arg
ENST00000674851.1:c.1046A>G ENSP00000502451.1:p.His349Arg
ENST00000674969.1:n.3288A>G
ENST00000675051.1:c.1214A>G ENSP00000502296.1:p.His405Arg
ENST00000675529.1:c.*1285A>G ENSP00000501655.1:n.*1285A>G
ENST00000675587.1:n.1431A>G
ENST00000675651.1:c.1415A>G ENSP00000502513.1:p.His472Arg
ENST00000675693.1:c.1247A>G ENSP00000502174.1:p.His416Arg
ENST00000675810.1:c.1313A>G ENSP00000502743.1:p.His438Arg
ENST00000675859.1:c.1415A>G ENSP00000502033.1:p.His472Arg
ENST00000675863.1:n.1423A>G
ENST00000675886.1:n.7455A>G
ENST00000676088.1:c.*1357A>G ENSP00000501884.1:n.*1357A>G
ENST00000676140.1:c.*360A>G ENSP00000502571.1:n.*360A>G
ENST00000676164.1:c.*866A>G ENSP00000501986.1:n.*866A>G
ENST00000676210.1:c.*704A>G ENSP00000502373.1:n.*704A>G
ENST00000676259.1:c.*847A>G ENSP00000501980.1:n.*847A>G
ENST00000676403.1:c.1415A>G ENSP00000502681.1:p.His472Arg
ENST00000389266.7:c.1415A>G ENSP00000373918.3:p.His472Arg
ENST00000478124.5:n.1453A>G
ENST00000484093.1:n.414A>G
NM_001316772.1:c.1253A>G NP_001303701.1:p.His418Arg
NM_002047.2:c.1415A>G , LRG_243t1:c.1415A>G NP_002038.2:p.His472Arg
NM_002047.3:c.1415A>G NP_002038.2:p.His472Arg
XM_006715686.1:c.1046A>G XP_006715749.1:p.His349Arg
XM_006715686.2:c.1046A>G XP_006715749.1:p.His349Arg
NM_002047.4:c.1415A>G MANE Select NP_002038.2:p.His472Arg
Search 100 bp 5'
Search 100 bp 3'