Canonical Allele Identifier: CA454518892

Gene: GARS1

Linked Data

• gnomAD v4: 7-30595113-G-C
• MyVariant Identifiers: chr7:g.30634729G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30595113G>C , CM000669.2:g.30595113G>C	GRCh38
NC_000007.13:g.30634729G>C , CM000669.1:g.30634729G>C	GRCh37
NC_000007.12:g.30601254G>C	NCBI36
NG_007942.1:g.5549G>C , LRG_243:g.5549G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.192G>C MANE Select	ENSP00000373918.3:p.Leu64=
ENST00000444666.6:c.192G>C	ENSP00000415447.2:p.Leu64=
ENST00000454308.6:c.192G>C	ENSP00000392677.2:p.Leu64=
ENST00000470392.2:n.282G>C
ENST00000478124.6:n.255G>C
ENST00000485784.2:n.271G>C
ENST00000674616.1:c.192G>C	ENSP00000502408.1:p.Leu64=
ENST00000674643.1:c.192G>C	ENSP00000501636.1:p.Leu64=
ENST00000674737.1:c.192G>C	ENSP00000502464.1:p.Leu64=
ENST00000674807.1:c.192G>C	ENSP00000502814.1:p.Leu64=
ENST00000674815.1:c.-148+161G>C	ENSP00000502799.1:n.-148+161G>C
ENST00000674851.1:c.-178G>C	ENSP00000502451.1:n.-178G>C
ENST00000674969.1:n.232G>C
ENST00000675051.1:c.22-3683G>C	ENSP00000502296.1:n.22-3683G>C
ENST00000675529.1:c.192G>C	ENSP00000501655.1:p.Leu64=
ENST00000675587.1:n.208G>C
ENST00000675651.1:c.192G>C	ENSP00000502513.1:p.Leu64=
ENST00000675693.1:c.24G>C	ENSP00000502174.1:p.Leu8=
ENST00000675810.1:c.192G>C	ENSP00000502743.1:p.Leu64=
ENST00000675859.1:c.192G>C	ENSP00000502033.1:p.Leu64=
ENST00000675863.1:n.200G>C
ENST00000675886.1:n.220G>C
ENST00000676088.1:c.192G>C	ENSP00000501884.1:p.Leu64=
ENST00000676140.1:c.192G>C	ENSP00000502571.1:p.Leu64=
ENST00000676164.1:c.192G>C	ENSP00000501986.1:p.Leu64=
ENST00000676210.1:c.192G>C	ENSP00000502373.1:p.Leu64=
ENST00000676259.1:c.192G>C	ENSP00000501980.1:p.Leu64=
ENST00000676403.1:c.192G>C	ENSP00000502681.1:p.Leu64=
ENST00000389266.7:c.192G>C	ENSP00000373918.3:p.Leu64=
ENST00000454308.5:c.192G>C	ENSP00000392677.1:p.Leu64=
ENST00000478124.5:n.230G>C
ENST00000627489.1:c.192G>C	ENSP00000485931.1:p.Leu64=
NM_001316772.1:c.30G>C	NP_001303701.1:p.Leu10=
NM_002047.2:c.192G>C , LRG_243t1:c.192G>C	NP_002038.2:p.Leu64=
NM_002047.3:c.192G>C	NP_002038.2:p.Leu64=
XM_006715686.2:c.-288G>C	XP_006715749.1:n.-288G>C
NM_002047.4:c.192G>C MANE Select	NP_002038.2:p.Leu64=