Canonical Allele Identifier: CA454246936
Gene: GARS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.30651781A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30612165A>T , CM000669.2:g.30612165A>T GRCh38
NC_000007.13:g.30651781A>T , CM000669.1:g.30651781A>T GRCh37
NC_000007.12:g.30618306A>T NCBI36
NG_007942.1:g.22601A>T , LRG_243:g.22601A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389266.8:c.951A>T MANE Select ENSP00000373918.3:p.Gly317=
ENST00000444666.6:c.951A>T ENSP00000415447.2:p.Gly317=
ENST00000470392.2:n.1041A>T
ENST00000478124.6:n.1014A>T
ENST00000485784.2:n.1030A>T
ENST00000674616.1:c.*665A>T ENSP00000502408.1:n.*665A>T
ENST00000674643.1:c.951A>T ENSP00000501636.1:p.Gly317=
ENST00000674734.1:n.1447A>T
ENST00000674737.1:c.*289A>T ENSP00000502464.1:n.*289A>T
ENST00000674807.1:c.951A>T ENSP00000502814.1:p.Gly317=
ENST00000674815.1:c.582A>T ENSP00000502799.1:p.Gly194=
ENST00000674851.1:c.582A>T ENSP00000502451.1:p.Gly194=
ENST00000674969.1:n.2824A>T
ENST00000675051.1:c.750A>T ENSP00000502296.1:p.Gly250=
ENST00000675529.1:c.*821A>T ENSP00000501655.1:n.*821A>T
ENST00000675587.1:n.967A>T
ENST00000675651.1:c.951A>T ENSP00000502513.1:p.Gly317=
ENST00000675693.1:c.783A>T ENSP00000502174.1:p.Gly261=
ENST00000675810.1:c.849A>T ENSP00000502743.1:p.Gly283=
ENST00000675859.1:c.951A>T ENSP00000502033.1:p.Gly317=
ENST00000675863.1:n.959A>T
ENST00000675886.1:n.6991A>T
ENST00000676088.1:c.*893A>T ENSP00000501884.1:n.*893A>T
ENST00000676140.1:c.951A>T ENSP00000502571.1:p.Gly317=
ENST00000676164.1:c.*402A>T ENSP00000501986.1:n.*402A>T
ENST00000676210.1:c.*240A>T ENSP00000502373.1:n.*240A>T
ENST00000676259.1:c.*383A>T ENSP00000501980.1:n.*383A>T
ENST00000676403.1:c.951A>T ENSP00000502681.1:p.Gly317=
ENST00000389266.7:c.951A>T ENSP00000373918.3:p.Gly317=
ENST00000478124.5:n.989A>T
NM_001316772.1:c.789A>T NP_001303701.1:p.Gly263=
NM_002047.2:c.951A>T , LRG_243t1:c.951A>T NP_002038.2:p.Gly317=
NM_002047.3:c.951A>T NP_002038.2:p.Gly317=
XM_006715686.1:c.582A>T XP_006715749.1:p.Gly194=
XM_006715686.2:c.582A>T XP_006715749.1:p.Gly194=
NM_002047.4:c.951A>T MANE Select NP_002038.2:p.Gly317=