Canonical Allele Identifier: CA367125137

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30651805G>C (hg19) ; chr7:g.30612189G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612189G>C , CM000669.2:g.30612189G>C	GRCh38
NC_000007.13:g.30651805G>C , CM000669.1:g.30651805G>C	GRCh37
NC_000007.12:g.30618330G>C	NCBI36
NG_007942.1:g.22625G>C , LRG_243:g.22625G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.975G>C MANE Select	ENSP00000373918.3:p.Gln325His
ENST00000444666.6:c.975G>C	ENSP00000415447.2:p.Gln325His
ENST00000470392.2:n.1065G>C
ENST00000478124.6:n.1038G>C
ENST00000485784.2:n.1054G>C
ENST00000674616.1:c.*689G>C	ENSP00000502408.1:n.*689G>C
ENST00000674643.1:c.975G>C	ENSP00000501636.1:p.Gln325His
ENST00000674734.1:n.1471G>C
ENST00000674737.1:c.*313G>C	ENSP00000502464.1:n.*313G>C
ENST00000674807.1:c.975G>C	ENSP00000502814.1:p.Gln325His
ENST00000674815.1:c.606G>C	ENSP00000502799.1:p.Gln202His
ENST00000674851.1:c.606G>C	ENSP00000502451.1:p.Gln202His
ENST00000674969.1:n.2848G>C
ENST00000675051.1:c.774G>C	ENSP00000502296.1:p.Gln258His
ENST00000675529.1:c.*845G>C	ENSP00000501655.1:n.*845G>C
ENST00000675587.1:n.991G>C
ENST00000675651.1:c.975G>C	ENSP00000502513.1:p.Gln325His
ENST00000675693.1:c.807G>C	ENSP00000502174.1:p.Gln269His
ENST00000675810.1:c.873G>C	ENSP00000502743.1:p.Gln291His
ENST00000675859.1:c.975G>C	ENSP00000502033.1:p.Gln325His
ENST00000675863.1:n.983G>C
ENST00000675886.1:n.7015G>C
ENST00000676088.1:c.*917G>C	ENSP00000501884.1:n.*917G>C
ENST00000676140.1:c.975G>C	ENSP00000502571.1:p.Gln325His
ENST00000676164.1:c.*426G>C	ENSP00000501986.1:n.*426G>C
ENST00000676210.1:c.*264G>C	ENSP00000502373.1:n.*264G>C
ENST00000676259.1:c.*407G>C	ENSP00000501980.1:n.*407G>C
ENST00000676403.1:c.975G>C	ENSP00000502681.1:p.Gln325His
ENST00000389266.7:c.975G>C	ENSP00000373918.3:p.Gln325His
ENST00000478124.5:n.1013G>C
NM_001316772.1:c.813G>C	NP_001303701.1:p.Gln271His
NM_002047.2:c.975G>C , LRG_243t1:c.975G>C	NP_002038.2:p.Gln325His
NM_002047.3:c.975G>C	NP_002038.2:p.Gln325His
XM_006715686.1:c.606G>C	XP_006715749.1:p.Gln202His
XM_006715686.2:c.606G>C	XP_006715749.1:p.Gln202His
NM_002047.4:c.975G>C MANE Select	NP_002038.2:p.Gln325His