Canonical Allele Identifier: CA454256839

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30665934T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30626318T>C , CM000669.2:g.30626318T>C	GRCh38
NC_000007.13:g.30665934T>C , CM000669.1:g.30665934T>C	GRCh37
NC_000007.12:g.30632459T>C	NCBI36
NG_007942.1:g.36754T>C , LRG_243:g.36754T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1698T>C MANE Select	ENSP00000373918.3:p.Tyr566=
ENST00000444666.6:c.1698T>C	ENSP00000415447.2:p.Tyr566=
ENST00000470392.2:n.1788T>C
ENST00000485784.2:n.1777T>C
ENST00000674616.1:c.*1412T>C	ENSP00000502408.1:n.*1412T>C
ENST00000674643.1:c.*798T>C	ENSP00000501636.1:n.*798T>C
ENST00000674737.1:c.*1036T>C	ENSP00000502464.1:n.*1036T>C
ENST00000674807.1:c.1614-2242T>C	ENSP00000502814.1:n.1614-2242T>C
ENST00000674815.1:c.1329T>C	ENSP00000502799.1:p.Tyr443=
ENST00000674851.1:c.1329T>C	ENSP00000502451.1:p.Tyr443=
ENST00000674969.1:n.3571T>C
ENST00000675051.1:c.1497T>C	ENSP00000502296.1:p.Tyr499=
ENST00000675529.1:c.*1568T>C	ENSP00000501655.1:n.*1568T>C
ENST00000675587.1:n.2530T>C
ENST00000675651.1:c.1698T>C	ENSP00000502513.1:p.Tyr566=
ENST00000675693.1:c.1530T>C	ENSP00000502174.1:p.Tyr510=
ENST00000675810.1:c.1596T>C	ENSP00000502743.1:p.Tyr532=
ENST00000675859.1:c.1614-2242T>C	ENSP00000502033.1:n.1614-2242T>C
ENST00000675863.1:n.1706T>C
ENST00000675886.1:n.7738T>C
ENST00000676088.1:c.*1640T>C	ENSP00000501884.1:n.*1640T>C
ENST00000676140.1:c.*643T>C	ENSP00000502571.1:n.*643T>C
ENST00000676164.1:c.*1149T>C	ENSP00000501986.1:n.*1149T>C
ENST00000676210.1:c.*987T>C	ENSP00000502373.1:n.*987T>C
ENST00000676259.1:c.*1130T>C	ENSP00000501980.1:n.*1130T>C
ENST00000676403.1:c.1698T>C	ENSP00000502681.1:p.Tyr566=
ENST00000389266.7:c.1698T>C	ENSP00000373918.3:p.Tyr566=
ENST00000444666.5:c.219T>C	ENSP00000415447.1:p.Tyr73=
ENST00000470392.1:n.420T>C
NM_001316772.1:c.1536T>C	NP_001303701.1:p.Tyr512=
NM_002047.2:c.1698T>C , LRG_243t1:c.1698T>C	NP_002038.2:p.Tyr566=
NM_002047.3:c.1698T>C	NP_002038.2:p.Tyr566=
XM_006715686.1:c.1329T>C	XP_006715749.1:p.Tyr443=
XM_006715686.2:c.1329T>C	XP_006715749.1:p.Tyr443=
NM_002047.4:c.1698T>C MANE Select	NP_002038.2:p.Tyr566=