Canonical Allele Identifier: CA367124894

Gene: GARS1

Linked Data

• gnomAD v4: 7-30612122-G-C
• MyVariant Identifiers: chr7:g.30651738G>C (hg19) ; chr7:g.30612122G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612122G>C , CM000669.2:g.30612122G>C	GRCh38
NC_000007.13:g.30651738G>C , CM000669.1:g.30651738G>C	GRCh37
NC_000007.12:g.30618263G>C	NCBI36
NG_007942.1:g.22558G>C , LRG_243:g.22558G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.908G>C MANE Select	ENSP00000373918.3:p.Gly303Ala
ENST00000444666.6:c.908G>C	ENSP00000415447.2:p.Gly303Ala
ENST00000470392.2:n.998G>C
ENST00000478124.6:n.971G>C
ENST00000485784.2:n.987G>C
ENST00000674616.1:c.*622G>C	ENSP00000502408.1:n.*622G>C
ENST00000674643.1:c.908G>C	ENSP00000501636.1:p.Gly303Ala
ENST00000674734.1:n.1404G>C
ENST00000674737.1:c.*246G>C	ENSP00000502464.1:n.*246G>C
ENST00000674807.1:c.908G>C	ENSP00000502814.1:p.Gly303Ala
ENST00000674815.1:c.539G>C	ENSP00000502799.1:p.Gly180Ala
ENST00000674851.1:c.539G>C	ENSP00000502451.1:p.Gly180Ala
ENST00000674969.1:n.2781G>C
ENST00000675051.1:c.707G>C	ENSP00000502296.1:p.Gly236Ala
ENST00000675529.1:c.*778G>C	ENSP00000501655.1:n.*778G>C
ENST00000675587.1:n.924G>C
ENST00000675651.1:c.908G>C	ENSP00000502513.1:p.Gly303Ala
ENST00000675693.1:c.740G>C	ENSP00000502174.1:p.Gly247Ala
ENST00000675810.1:c.806G>C	ENSP00000502743.1:p.Gly269Ala
ENST00000675859.1:c.908G>C	ENSP00000502033.1:p.Gly303Ala
ENST00000675863.1:n.916G>C
ENST00000675886.1:n.6948G>C
ENST00000676088.1:c.*850G>C	ENSP00000501884.1:n.*850G>C
ENST00000676140.1:c.908G>C	ENSP00000502571.1:p.Gly303Ala
ENST00000676164.1:c.*359G>C	ENSP00000501986.1:n.*359G>C
ENST00000676210.1:c.*197G>C	ENSP00000502373.1:n.*197G>C
ENST00000676259.1:c.*340G>C	ENSP00000501980.1:n.*340G>C
ENST00000676403.1:c.908G>C	ENSP00000502681.1:p.Gly303Ala
ENST00000389266.7:c.908G>C	ENSP00000373918.3:p.Gly303Ala
ENST00000478124.5:n.946G>C
NM_001316772.1:c.746G>C	NP_001303701.1:p.Gly249Ala
NM_002047.2:c.908G>C , LRG_243t1:c.908G>C	NP_002038.2:p.Gly303Ala
NM_002047.3:c.908G>C	NP_002038.2:p.Gly303Ala
XM_006715686.1:c.539G>C	XP_006715749.1:p.Gly180Ala
XM_006715686.2:c.539G>C	XP_006715749.1:p.Gly180Ala
NM_002047.4:c.908G>C MANE Select	NP_002038.2:p.Gly303Ala