Canonical Allele Identifier: CA367123960

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30649204G>T (hg19) ; chr7:g.30609588G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609588G>T , CM000669.2:g.30609588G>T	GRCh38
NC_000007.13:g.30649204G>T , CM000669.1:g.30649204G>T	GRCh37
NC_000007.12:g.30615729G>T	NCBI36
NG_007942.1:g.20024G>T , LRG_243:g.20024G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.739G>T MANE Select	ENSP00000373918.3:p.Asp247Tyr
ENST00000444666.6:c.739G>T	ENSP00000415447.2:p.Asp247Tyr
ENST00000470392.2:n.829G>T
ENST00000478124.6:n.802G>T
ENST00000485784.2:n.818G>T
ENST00000674616.1:c.*453G>T	ENSP00000502408.1:n.*453G>T
ENST00000674643.1:c.739G>T	ENSP00000501636.1:p.Asp247Tyr
ENST00000674734.1:n.1235G>T
ENST00000674737.1:c.*77G>T	ENSP00000502464.1:n.*77G>T
ENST00000674807.1:c.739G>T	ENSP00000502814.1:p.Asp247Tyr
ENST00000674815.1:c.370G>T	ENSP00000502799.1:p.Asp124Tyr
ENST00000674851.1:c.370G>T	ENSP00000502451.1:p.Asp124Tyr
ENST00000674969.1:n.2612G>T
ENST00000675051.1:c.538G>T	ENSP00000502296.1:p.Asp180Tyr
ENST00000675529.1:c.*609G>T	ENSP00000501655.1:n.*609G>T
ENST00000675587.1:n.755G>T
ENST00000675651.1:c.739G>T	ENSP00000502513.1:p.Asp247Tyr
ENST00000675693.1:c.571G>T	ENSP00000502174.1:p.Asp191Tyr
ENST00000675810.1:c.637G>T	ENSP00000502743.1:p.Asp213Tyr
ENST00000675859.1:c.739G>T	ENSP00000502033.1:p.Asp247Tyr
ENST00000675863.1:n.747G>T
ENST00000675886.1:n.6779G>T
ENST00000676088.1:c.*681G>T	ENSP00000501884.1:n.*681G>T
ENST00000676140.1:c.739G>T	ENSP00000502571.1:p.Asp247Tyr
ENST00000676164.1:c.*190G>T	ENSP00000501986.1:n.*190G>T
ENST00000676210.1:c.*28G>T	ENSP00000502373.1:n.*28G>T
ENST00000676259.1:c.*171G>T	ENSP00000501980.1:n.*171G>T
ENST00000676403.1:c.739G>T	ENSP00000502681.1:p.Asp247Tyr
ENST00000389266.7:c.739G>T	ENSP00000373918.3:p.Asp247Tyr
ENST00000478124.5:n.777G>T
NM_001316772.1:c.577G>T	NP_001303701.1:p.Asp193Tyr
NM_002047.2:c.739G>T , LRG_243t1:c.739G>T	NP_002038.2:p.Asp247Tyr
NM_002047.3:c.739G>T	NP_002038.2:p.Asp247Tyr
XM_006715686.1:c.370G>T	XP_006715749.1:p.Asp124Tyr
XM_006715686.2:c.370G>T	XP_006715749.1:p.Asp124Tyr
NM_002047.4:c.739G>T MANE Select	NP_002038.2:p.Asp247Tyr