Canonical Allele Identifier: CA454246879
Gene: GARS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.30651745C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30612129C>T , CM000669.2:g.30612129C>T GRCh38
NC_000007.13:g.30651745C>T , CM000669.1:g.30651745C>T GRCh37
NC_000007.12:g.30618270C>T NCBI36
NG_007942.1:g.22565C>T , LRG_243:g.22565C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389266.8:c.915C>T MANE Select ENSP00000373918.3:p.Phe305=
ENST00000444666.6:c.915C>T ENSP00000415447.2:p.Phe305=
ENST00000470392.2:n.1005C>T
ENST00000478124.6:n.978C>T
ENST00000485784.2:n.994C>T
ENST00000674616.1:c.*629C>T ENSP00000502408.1:n.*629C>T
ENST00000674643.1:c.915C>T ENSP00000501636.1:p.Phe305=
ENST00000674734.1:n.1411C>T
ENST00000674737.1:c.*253C>T ENSP00000502464.1:n.*253C>T
ENST00000674807.1:c.915C>T ENSP00000502814.1:p.Phe305=
ENST00000674815.1:c.546C>T ENSP00000502799.1:p.Phe182=
ENST00000674851.1:c.546C>T ENSP00000502451.1:p.Phe182=
ENST00000674969.1:n.2788C>T
ENST00000675051.1:c.714C>T ENSP00000502296.1:p.Phe238=
ENST00000675529.1:c.*785C>T ENSP00000501655.1:n.*785C>T
ENST00000675587.1:n.931C>T
ENST00000675651.1:c.915C>T ENSP00000502513.1:p.Phe305=
ENST00000675693.1:c.747C>T ENSP00000502174.1:p.Phe249=
ENST00000675810.1:c.813C>T ENSP00000502743.1:p.Phe271=
ENST00000675859.1:c.915C>T ENSP00000502033.1:p.Phe305=
ENST00000675863.1:n.923C>T
ENST00000675886.1:n.6955C>T
ENST00000676088.1:c.*857C>T ENSP00000501884.1:n.*857C>T
ENST00000676140.1:c.915C>T ENSP00000502571.1:p.Phe305=
ENST00000676164.1:c.*366C>T ENSP00000501986.1:n.*366C>T
ENST00000676210.1:c.*204C>T ENSP00000502373.1:n.*204C>T
ENST00000676259.1:c.*347C>T ENSP00000501980.1:n.*347C>T
ENST00000676403.1:c.915C>T ENSP00000502681.1:p.Phe305=
ENST00000389266.7:c.915C>T ENSP00000373918.3:p.Phe305=
ENST00000478124.5:n.953C>T
NM_001316772.1:c.753C>T NP_001303701.1:p.Phe251=
NM_002047.2:c.915C>T , LRG_243t1:c.915C>T NP_002038.2:p.Phe305=
NM_002047.3:c.915C>T NP_002038.2:p.Phe305=
XM_006715686.1:c.546C>T XP_006715749.1:p.Phe182=
XM_006715686.2:c.546C>T XP_006715749.1:p.Phe182=
NM_002047.4:c.915C>T MANE Select NP_002038.2:p.Phe305=