Canonical Allele Identifier: CA367125122

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30651800G>C (hg19) ; chr7:g.30612184G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612184G>C , CM000669.2:g.30612184G>C	GRCh38
NC_000007.13:g.30651800G>C , CM000669.1:g.30651800G>C	GRCh37
NC_000007.12:g.30618325G>C	NCBI36
NG_007942.1:g.22620G>C , LRG_243:g.22620G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.970G>C MANE Select	ENSP00000373918.3:p.Ala324Pro
ENST00000444666.6:c.970G>C	ENSP00000415447.2:p.Ala324Pro
ENST00000470392.2:n.1060G>C
ENST00000478124.6:n.1033G>C
ENST00000485784.2:n.1049G>C
ENST00000674616.1:c.*684G>C	ENSP00000502408.1:n.*684G>C
ENST00000674643.1:c.970G>C	ENSP00000501636.1:p.Ala324Pro
ENST00000674734.1:n.1466G>C
ENST00000674737.1:c.*308G>C	ENSP00000502464.1:n.*308G>C
ENST00000674807.1:c.970G>C	ENSP00000502814.1:p.Ala324Pro
ENST00000674815.1:c.601G>C	ENSP00000502799.1:p.Ala201Pro
ENST00000674851.1:c.601G>C	ENSP00000502451.1:p.Ala201Pro
ENST00000674969.1:n.2843G>C
ENST00000675051.1:c.769G>C	ENSP00000502296.1:p.Ala257Pro
ENST00000675529.1:c.*840G>C	ENSP00000501655.1:n.*840G>C
ENST00000675587.1:n.986G>C
ENST00000675651.1:c.970G>C	ENSP00000502513.1:p.Ala324Pro
ENST00000675693.1:c.802G>C	ENSP00000502174.1:p.Ala268Pro
ENST00000675810.1:c.868G>C	ENSP00000502743.1:p.Ala290Pro
ENST00000675859.1:c.970G>C	ENSP00000502033.1:p.Ala324Pro
ENST00000675863.1:n.978G>C
ENST00000675886.1:n.7010G>C
ENST00000676088.1:c.*912G>C	ENSP00000501884.1:n.*912G>C
ENST00000676140.1:c.970G>C	ENSP00000502571.1:p.Ala324Pro
ENST00000676164.1:c.*421G>C	ENSP00000501986.1:n.*421G>C
ENST00000676210.1:c.*259G>C	ENSP00000502373.1:n.*259G>C
ENST00000676259.1:c.*402G>C	ENSP00000501980.1:n.*402G>C
ENST00000676403.1:c.970G>C	ENSP00000502681.1:p.Ala324Pro
ENST00000389266.7:c.970G>C	ENSP00000373918.3:p.Ala324Pro
ENST00000478124.5:n.1008G>C
NM_001316772.1:c.808G>C	NP_001303701.1:p.Ala270Pro
NM_002047.2:c.970G>C , LRG_243t1:c.970G>C	NP_002038.2:p.Ala324Pro
NM_002047.3:c.970G>C	NP_002038.2:p.Ala324Pro
XM_006715686.1:c.601G>C	XP_006715749.1:p.Ala201Pro
XM_006715686.2:c.601G>C	XP_006715749.1:p.Ala201Pro
NM_002047.4:c.970G>C MANE Select	NP_002038.2:p.Ala324Pro