Canonical Allele Identifier: CA454247591

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30651838T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612222T>G , CM000669.2:g.30612222T>G	GRCh38
NC_000007.13:g.30651838T>G , CM000669.1:g.30651838T>G	GRCh37
NC_000007.12:g.30618363T>G	NCBI36
NG_007942.1:g.22658T>G , LRG_243:g.22658T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1008T>G MANE Select	ENSP00000373918.3:p.Pro336=
ENST00000444666.6:c.1008T>G	ENSP00000415447.2:p.Pro336=
ENST00000470392.2:n.1098T>G
ENST00000478124.6:n.1071T>G
ENST00000485784.2:n.1087T>G
ENST00000674616.1:c.*722T>G	ENSP00000502408.1:n.*722T>G
ENST00000674643.1:c.1008T>G	ENSP00000501636.1:p.Pro336=
ENST00000674734.1:n.1504T>G
ENST00000674737.1:c.*346T>G	ENSP00000502464.1:n.*346T>G
ENST00000674807.1:c.1008T>G	ENSP00000502814.1:p.Pro336=
ENST00000674815.1:c.639T>G	ENSP00000502799.1:p.Pro213=
ENST00000674851.1:c.639T>G	ENSP00000502451.1:p.Pro213=
ENST00000674969.1:n.2881T>G
ENST00000675051.1:c.807T>G	ENSP00000502296.1:p.Pro269=
ENST00000675529.1:c.*878T>G	ENSP00000501655.1:n.*878T>G
ENST00000675587.1:n.1024T>G
ENST00000675651.1:c.1008T>G	ENSP00000502513.1:p.Pro336=
ENST00000675693.1:c.840T>G	ENSP00000502174.1:p.Pro280=
ENST00000675810.1:c.906T>G	ENSP00000502743.1:p.Pro302=
ENST00000675859.1:c.1008T>G	ENSP00000502033.1:p.Pro336=
ENST00000675863.1:n.1016T>G
ENST00000675886.1:n.7048T>G
ENST00000676088.1:c.*950T>G	ENSP00000501884.1:n.*950T>G
ENST00000676140.1:c.1008T>G	ENSP00000502571.1:p.Pro336=
ENST00000676164.1:c.*459T>G	ENSP00000501986.1:n.*459T>G
ENST00000676210.1:c.*297T>G	ENSP00000502373.1:n.*297T>G
ENST00000676259.1:c.*440T>G	ENSP00000501980.1:n.*440T>G
ENST00000676403.1:c.1008T>G	ENSP00000502681.1:p.Pro336=
ENST00000389266.7:c.1008T>G	ENSP00000373918.3:p.Pro336=
ENST00000478124.5:n.1046T>G
NM_001316772.1:c.846T>G	NP_001303701.1:p.Pro282=
NM_002047.2:c.1008T>G , LRG_243t1:c.1008T>G	NP_002038.2:p.Pro336=
NM_002047.3:c.1008T>G	NP_002038.2:p.Pro336=
XM_006715686.1:c.639T>G	XP_006715749.1:p.Pro213=
XM_006715686.2:c.639T>G	XP_006715749.1:p.Pro213=
NM_002047.4:c.1008T>G MANE Select	NP_002038.2:p.Pro336=