Canonical Allele Identifier: CA454246793
Gene: GARS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.30649254A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30609638A>T , CM000669.2:g.30609638A>T GRCh38
NC_000007.13:g.30649254A>T , CM000669.1:g.30649254A>T GRCh37
NC_000007.12:g.30615779A>T NCBI36
NG_007942.1:g.20074A>T , LRG_243:g.20074A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389266.8:c.789A>T MANE Select ENSP00000373918.3:p.Val263=
ENST00000444666.6:c.789A>T ENSP00000415447.2:p.Val263=
ENST00000470392.2:n.879A>T
ENST00000478124.6:n.852A>T
ENST00000485784.2:n.868A>T
ENST00000674616.1:c.*503A>T ENSP00000502408.1:n.*503A>T
ENST00000674643.1:c.789A>T ENSP00000501636.1:p.Val263=
ENST00000674734.1:n.1285A>T
ENST00000674737.1:c.*127A>T ENSP00000502464.1:n.*127A>T
ENST00000674807.1:c.789A>T ENSP00000502814.1:p.Val263=
ENST00000674815.1:c.420A>T ENSP00000502799.1:p.Val140=
ENST00000674851.1:c.420A>T ENSP00000502451.1:p.Val140=
ENST00000674969.1:n.2662A>T
ENST00000675051.1:c.588A>T ENSP00000502296.1:p.Val196=
ENST00000675529.1:c.*659A>T ENSP00000501655.1:n.*659A>T
ENST00000675587.1:n.805A>T
ENST00000675651.1:c.789A>T ENSP00000502513.1:p.Val263=
ENST00000675693.1:c.621A>T ENSP00000502174.1:p.Val207=
ENST00000675810.1:c.687A>T ENSP00000502743.1:p.Val229=
ENST00000675859.1:c.789A>T ENSP00000502033.1:p.Val263=
ENST00000675863.1:n.797A>T
ENST00000675886.1:n.6829A>T
ENST00000676088.1:c.*731A>T ENSP00000501884.1:n.*731A>T
ENST00000676140.1:c.789A>T ENSP00000502571.1:p.Val263=
ENST00000676164.1:c.*240A>T ENSP00000501986.1:n.*240A>T
ENST00000676210.1:c.*78A>T ENSP00000502373.1:n.*78A>T
ENST00000676259.1:c.*221A>T ENSP00000501980.1:n.*221A>T
ENST00000676403.1:c.789A>T ENSP00000502681.1:p.Val263=
ENST00000389266.7:c.789A>T ENSP00000373918.3:p.Val263=
ENST00000478124.5:n.827A>T
NM_001316772.1:c.627A>T NP_001303701.1:p.Val209=
NM_002047.2:c.789A>T , LRG_243t1:c.789A>T NP_002038.2:p.Val263=
NM_002047.3:c.789A>T NP_002038.2:p.Val263=
XM_006715686.1:c.420A>T XP_006715749.1:p.Val140=
XM_006715686.2:c.420A>T XP_006715749.1:p.Val140=
NM_002047.4:c.789A>T MANE Select NP_002038.2:p.Val263=