Canonical Allele Identifier: CA454246772

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30649206T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609590T>C , CM000669.2:g.30609590T>C	GRCh38
NC_000007.13:g.30649206T>C , CM000669.1:g.30649206T>C	GRCh37
NC_000007.12:g.30615731T>C	NCBI36
NG_007942.1:g.20026T>C , LRG_243:g.20026T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.741T>C MANE Select	ENSP00000373918.3:p.Asp247=
ENST00000444666.6:c.741T>C	ENSP00000415447.2:p.Asp247=
ENST00000470392.2:n.831T>C
ENST00000478124.6:n.804T>C
ENST00000485784.2:n.820T>C
ENST00000674616.1:c.*455T>C	ENSP00000502408.1:n.*455T>C
ENST00000674643.1:c.741T>C	ENSP00000501636.1:p.Asp247=
ENST00000674734.1:n.1237T>C
ENST00000674737.1:c.*79T>C	ENSP00000502464.1:n.*79T>C
ENST00000674807.1:c.741T>C	ENSP00000502814.1:p.Asp247=
ENST00000674815.1:c.372T>C	ENSP00000502799.1:p.Asp124=
ENST00000674851.1:c.372T>C	ENSP00000502451.1:p.Asp124=
ENST00000674969.1:n.2614T>C
ENST00000675051.1:c.540T>C	ENSP00000502296.1:p.Asp180=
ENST00000675529.1:c.*611T>C	ENSP00000501655.1:n.*611T>C
ENST00000675587.1:n.757T>C
ENST00000675651.1:c.741T>C	ENSP00000502513.1:p.Asp247=
ENST00000675693.1:c.573T>C	ENSP00000502174.1:p.Asp191=
ENST00000675810.1:c.639T>C	ENSP00000502743.1:p.Asp213=
ENST00000675859.1:c.741T>C	ENSP00000502033.1:p.Asp247=
ENST00000675863.1:n.749T>C
ENST00000675886.1:n.6781T>C
ENST00000676088.1:c.*683T>C	ENSP00000501884.1:n.*683T>C
ENST00000676140.1:c.741T>C	ENSP00000502571.1:p.Asp247=
ENST00000676164.1:c.*192T>C	ENSP00000501986.1:n.*192T>C
ENST00000676210.1:c.*30T>C	ENSP00000502373.1:n.*30T>C
ENST00000676259.1:c.*173T>C	ENSP00000501980.1:n.*173T>C
ENST00000676403.1:c.741T>C	ENSP00000502681.1:p.Asp247=
ENST00000389266.7:c.741T>C	ENSP00000373918.3:p.Asp247=
ENST00000478124.5:n.779T>C
NM_001316772.1:c.579T>C	NP_001303701.1:p.Asp193=
NM_002047.2:c.741T>C , LRG_243t1:c.741T>C	NP_002038.2:p.Asp247=
NM_002047.3:c.741T>C	NP_002038.2:p.Asp247=
XM_006715686.1:c.372T>C	XP_006715749.1:p.Asp124=
XM_006715686.2:c.372T>C	XP_006715749.1:p.Asp124=
NM_002047.4:c.741T>C MANE Select	NP_002038.2:p.Asp247=