Canonical Allele Identifier: CA454247708
Gene: GARS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.30651859C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30612243C>T , CM000669.2:g.30612243C>T GRCh38
NC_000007.13:g.30651859C>T , CM000669.1:g.30651859C>T GRCh37
NC_000007.12:g.30618384C>T NCBI36
NG_007942.1:g.22679C>T , LRG_243:g.22679C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389266.8:c.1029C>T MANE Select ENSP00000373918.3:p.Val343=
ENST00000444666.6:c.1029C>T ENSP00000415447.2:p.Val343=
ENST00000470392.2:n.1119C>T
ENST00000478124.6:n.1092C>T
ENST00000485784.2:n.1108C>T
ENST00000674616.1:c.*743C>T ENSP00000502408.1:n.*743C>T
ENST00000674643.1:c.1029C>T ENSP00000501636.1:p.Val343=
ENST00000674734.1:n.1525C>T
ENST00000674737.1:c.*367C>T ENSP00000502464.1:n.*367C>T
ENST00000674807.1:c.1029C>T ENSP00000502814.1:p.Val343=
ENST00000674815.1:c.660C>T ENSP00000502799.1:p.Val220=
ENST00000674851.1:c.660C>T ENSP00000502451.1:p.Val220=
ENST00000674969.1:n.2902C>T
ENST00000675051.1:c.828C>T ENSP00000502296.1:p.Val276=
ENST00000675529.1:c.*899C>T ENSP00000501655.1:n.*899C>T
ENST00000675587.1:n.1045C>T
ENST00000675651.1:c.1029C>T ENSP00000502513.1:p.Val343=
ENST00000675693.1:c.861C>T ENSP00000502174.1:p.Val287=
ENST00000675810.1:c.927C>T ENSP00000502743.1:p.Val309=
ENST00000675859.1:c.1029C>T ENSP00000502033.1:p.Val343=
ENST00000675863.1:n.1037C>T
ENST00000675886.1:n.7069C>T
ENST00000676088.1:c.*971C>T ENSP00000501884.1:n.*971C>T
ENST00000676140.1:c.1029C>T ENSP00000502571.1:p.Val343=
ENST00000676164.1:c.*480C>T ENSP00000501986.1:n.*480C>T
ENST00000676210.1:c.*318C>T ENSP00000502373.1:n.*318C>T
ENST00000676259.1:c.*461C>T ENSP00000501980.1:n.*461C>T
ENST00000676403.1:c.1029C>T ENSP00000502681.1:p.Val343=
ENST00000389266.7:c.1029C>T ENSP00000373918.3:p.Val343=
ENST00000478124.5:n.1067C>T
NM_001316772.1:c.867C>T NP_001303701.1:p.Val289=
NM_002047.2:c.1029C>T , LRG_243t1:c.1029C>T NP_002038.2:p.Val343=
NM_002047.3:c.1029C>T NP_002038.2:p.Val343=
XM_006715686.1:c.660C>T XP_006715749.1:p.Val220=
XM_006715686.2:c.660C>T XP_006715749.1:p.Val220=
NM_002047.4:c.1029C>T MANE Select NP_002038.2:p.Val343=