Canonical Allele Identifier: CA156050248

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30651747T>C (hg19) ; chr7:g.30612131T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612131T>C , CM000669.2:g.30612131T>C	GRCh38
NC_000007.13:g.30651747T>C , CM000669.1:g.30651747T>C	GRCh37
NC_000007.12:g.30618272T>C	NCBI36
NG_007942.1:g.22567T>C , LRG_243:g.22567T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.917T>C MANE Select	ENSP00000373918.3:p.Leu306Ser
ENST00000444666.6:c.917T>C	ENSP00000415447.2:p.Leu306Ser
ENST00000470392.2:n.1007T>C
ENST00000478124.6:n.980T>C
ENST00000485784.2:n.996T>C
ENST00000674616.1:c.*631T>C	ENSP00000502408.1:n.*631T>C
ENST00000674643.1:c.917T>C	ENSP00000501636.1:p.Leu306Ser
ENST00000674734.1:n.1413T>C
ENST00000674737.1:c.*255T>C	ENSP00000502464.1:n.*255T>C
ENST00000674807.1:c.917T>C	ENSP00000502814.1:p.Leu306Ser
ENST00000674815.1:c.548T>C	ENSP00000502799.1:p.Leu183Ser
ENST00000674851.1:c.548T>C	ENSP00000502451.1:p.Leu183Ser
ENST00000674969.1:n.2790T>C
ENST00000675051.1:c.716T>C	ENSP00000502296.1:p.Leu239Ser
ENST00000675529.1:c.*787T>C	ENSP00000501655.1:n.*787T>C
ENST00000675587.1:n.933T>C
ENST00000675651.1:c.917T>C	ENSP00000502513.1:p.Leu306Ser
ENST00000675693.1:c.749T>C	ENSP00000502174.1:p.Leu250Ser
ENST00000675810.1:c.815T>C	ENSP00000502743.1:p.Leu272Ser
ENST00000675859.1:c.917T>C	ENSP00000502033.1:p.Leu306Ser
ENST00000675863.1:n.925T>C
ENST00000675886.1:n.6957T>C
ENST00000676088.1:c.*859T>C	ENSP00000501884.1:n.*859T>C
ENST00000676140.1:c.917T>C	ENSP00000502571.1:p.Leu306Ser
ENST00000676164.1:c.*368T>C	ENSP00000501986.1:n.*368T>C
ENST00000676210.1:c.*206T>C	ENSP00000502373.1:n.*206T>C
ENST00000676259.1:c.*349T>C	ENSP00000501980.1:n.*349T>C
ENST00000676403.1:c.917T>C	ENSP00000502681.1:p.Leu306Ser
ENST00000389266.7:c.917T>C	ENSP00000373918.3:p.Leu306Ser
ENST00000478124.5:n.955T>C
NM_001316772.1:c.755T>C	NP_001303701.1:p.Leu252Ser
NM_002047.2:c.917T>C , LRG_243t1:c.917T>C	NP_002038.2:p.Leu306Ser
NM_002047.3:c.917T>C	NP_002038.2:p.Leu306Ser
XM_006715686.1:c.548T>C	XP_006715749.1:p.Leu183Ser
XM_006715686.2:c.548T>C	XP_006715749.1:p.Leu183Ser
NM_002047.4:c.917T>C MANE Select	NP_002038.2:p.Leu306Ser