Canonical Allele Identifier: CA454256825

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30665910G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30626294G>C , CM000669.2:g.30626294G>C	GRCh38
NC_000007.13:g.30665910G>C , CM000669.1:g.30665910G>C	GRCh37
NC_000007.12:g.30632435G>C	NCBI36
NG_007942.1:g.36730G>C , LRG_243:g.36730G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000389266.8:c.1674G>C MANE Select	ENSP00000373918.3:p.Val558=
ENST00000444666.6:c.1674G>C	ENSP00000415447.2:p.Val558=
ENST00000470392.2:n.1764G>C
ENST00000485784.2:n.1753G>C
ENST00000674616.1:c.*1388G>C	ENSP00000502408.1:n.*1388G>C
ENST00000674643.1:c.*774G>C	ENSP00000501636.1:n.*774G>C
ENST00000674737.1:c.*1012G>C	ENSP00000502464.1:n.*1012G>C
ENST00000674807.1:c.1614-2266G>C	ENSP00000502814.1:n.1614-2266G>C
ENST00000674815.1:c.1305G>C	ENSP00000502799.1:p.Val435=
ENST00000674851.1:c.1305G>C	ENSP00000502451.1:p.Val435=
ENST00000674969.1:n.3547G>C
ENST00000675051.1:c.1473G>C	ENSP00000502296.1:p.Val491=
ENST00000675529.1:c.*1544G>C	ENSP00000501655.1:n.*1544G>C
ENST00000675587.1:n.2506G>C
ENST00000675651.1:c.1674G>C	ENSP00000502513.1:p.Val558=
ENST00000675693.1:c.1506G>C	ENSP00000502174.1:p.Val502=
ENST00000675810.1:c.1572G>C	ENSP00000502743.1:p.Val524=
ENST00000675859.1:c.1614-2266G>C	ENSP00000502033.1:n.1614-2266G>C
ENST00000675863.1:n.1682G>C
ENST00000675886.1:n.7714G>C
ENST00000676088.1:c.*1616G>C	ENSP00000501884.1:n.*1616G>C
ENST00000676140.1:c.*619G>C	ENSP00000502571.1:n.*619G>C
ENST00000676164.1:c.*1125G>C	ENSP00000501986.1:n.*1125G>C
ENST00000676210.1:c.*963G>C	ENSP00000502373.1:n.*963G>C
ENST00000676259.1:c.*1106G>C	ENSP00000501980.1:n.*1106G>C
ENST00000676403.1:c.1674G>C	ENSP00000502681.1:p.Val558=
ENST00000389266.7:c.1674G>C	ENSP00000373918.3:p.Val558=
ENST00000444666.5:c.195G>C	ENSP00000415447.1:p.Val65=
ENST00000470392.1:n.396G>C
NM_001316772.1:c.1512G>C	NP_001303701.1:p.Val504=
NM_002047.2:c.1674G>C , LRG_243t1:c.1674G>C	NP_002038.2:p.Val558=
NM_002047.3:c.1674G>C	NP_002038.2:p.Val558=
XM_006715686.1:c.1305G>C	XP_006715749.1:p.Val435=
XM_006715686.2:c.1305G>C	XP_006715749.1:p.Val435=
NM_002047.4:c.1674G>C MANE Select	NP_002038.2:p.Val558=