Canonical Allele Identifier: CA4205608
Gene: GARS1 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30595137C>T , CM000669.2:g.30595137C>T GRCh38
NC_000007.13:g.30634753C>T , CM000669.1:g.30634753C>T GRCh37
NC_000007.12:g.30601278C>T NCBI36
NG_007942.1:g.5573C>T , LRG_243:g.5573C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389266.8:c.216C>T MANE Select ENSP00000373918.3:p.Arg72=
ENST00000444666.6:c.216C>T ENSP00000415447.2:p.Arg72=
ENST00000454308.6:c.216C>T ENSP00000392677.2:p.Arg72=
ENST00000470392.2:n.306C>T
ENST00000478124.6:n.279C>T
ENST00000485784.2:n.295C>T
ENST00000674616.1:c.216C>T ENSP00000502408.1:p.Arg72=
ENST00000674643.1:c.216C>T ENSP00000501636.1:p.Arg72=
ENST00000674737.1:c.216C>T ENSP00000502464.1:p.Arg72=
ENST00000674807.1:c.216C>T ENSP00000502814.1:p.Arg72=
ENST00000674815.1:c.-148+185C>T ENSP00000502799.1:n.-148+185C>T
ENST00000674851.1:c.-154C>T ENSP00000502451.1:n.-154C>T
ENST00000674969.1:n.256C>T
ENST00000675051.1:c.22-3659C>T ENSP00000502296.1:n.22-3659C>T
ENST00000675529.1:c.216C>T ENSP00000501655.1:p.Arg72=
ENST00000675587.1:n.232C>T
ENST00000675651.1:c.216C>T ENSP00000502513.1:p.Arg72=
ENST00000675693.1:c.48C>T ENSP00000502174.1:p.Arg16=
ENST00000675810.1:c.216C>T ENSP00000502743.1:p.Arg72=
ENST00000675859.1:c.216C>T ENSP00000502033.1:p.Arg72=
ENST00000675863.1:n.224C>T
ENST00000675886.1:n.244C>T
ENST00000676088.1:c.216C>T ENSP00000501884.1:p.Arg72=
ENST00000676140.1:c.216C>T ENSP00000502571.1:p.Arg72=
ENST00000676164.1:c.216C>T ENSP00000501986.1:p.Arg72=
ENST00000676210.1:c.216C>T ENSP00000502373.1:p.Arg72=
ENST00000676259.1:c.216C>T ENSP00000501980.1:p.Arg72=
ENST00000676403.1:c.216C>T ENSP00000502681.1:p.Arg72=
ENST00000389266.7:c.216C>T ENSP00000373918.3:p.Arg72=
ENST00000454308.5:c.216C>T ENSP00000392677.1:p.Arg72=
ENST00000478124.5:n.254C>T
ENST00000627489.1:c.216C>T ENSP00000485931.1:p.Arg72=
NM_001316772.1:c.54C>T NP_001303701.1:p.Arg18=
NM_002047.2:c.216C>T , LRG_243t1:c.216C>T NP_002038.2:p.Arg72=
NM_002047.3:c.216C>T NP_002038.2:p.Arg72=
XM_006715686.2:c.-264C>T XP_006715749.1:n.-264C>T
NM_002047.4:c.216C>T MANE Select NP_002038.2:p.Arg72=