Canonical Allele Identifier: CA367124627

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30649318T>C (hg19) ; chr7:g.30609702T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609702T>C , CM000669.2:g.30609702T>C	GRCh38
NC_000007.13:g.30649318T>C , CM000669.1:g.30649318T>C	GRCh37
NC_000007.12:g.30615843T>C	NCBI36
NG_007942.1:g.20138T>C , LRG_243:g.20138T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.853T>C MANE Select	ENSP00000373918.3:p.Phe285Leu
ENST00000444666.6:c.853T>C	ENSP00000415447.2:p.Phe285Leu
ENST00000470392.2:n.943T>C
ENST00000478124.6:n.916T>C
ENST00000485784.2:n.932T>C
ENST00000674616.1:c.*567T>C	ENSP00000502408.1:n.*567T>C
ENST00000674643.1:c.853T>C	ENSP00000501636.1:p.Phe285Leu
ENST00000674734.1:n.1349T>C
ENST00000674737.1:c.*191T>C	ENSP00000502464.1:n.*191T>C
ENST00000674807.1:c.853T>C	ENSP00000502814.1:p.Phe285Leu
ENST00000674815.1:c.484T>C	ENSP00000502799.1:p.Phe162Leu
ENST00000674851.1:c.484T>C	ENSP00000502451.1:p.Phe162Leu
ENST00000674969.1:n.2726T>C
ENST00000675051.1:c.652T>C	ENSP00000502296.1:p.Phe218Leu
ENST00000675529.1:c.*723T>C	ENSP00000501655.1:n.*723T>C
ENST00000675587.1:n.869T>C
ENST00000675651.1:c.853T>C	ENSP00000502513.1:p.Phe285Leu
ENST00000675693.1:c.685T>C	ENSP00000502174.1:p.Phe229Leu
ENST00000675810.1:c.751T>C	ENSP00000502743.1:p.Phe251Leu
ENST00000675859.1:c.853T>C	ENSP00000502033.1:p.Phe285Leu
ENST00000675863.1:n.861T>C
ENST00000675886.1:n.6893T>C
ENST00000676088.1:c.*795T>C	ENSP00000501884.1:n.*795T>C
ENST00000676140.1:c.853T>C	ENSP00000502571.1:p.Phe285Leu
ENST00000676164.1:c.*304T>C	ENSP00000501986.1:n.*304T>C
ENST00000676210.1:c.*142T>C	ENSP00000502373.1:n.*142T>C
ENST00000676259.1:c.*285T>C	ENSP00000501980.1:n.*285T>C
ENST00000676403.1:c.853T>C	ENSP00000502681.1:p.Phe285Leu
ENST00000389266.7:c.853T>C	ENSP00000373918.3:p.Phe285Leu
ENST00000478124.5:n.891T>C
NM_001316772.1:c.691T>C	NP_001303701.1:p.Phe231Leu
NM_002047.2:c.853T>C , LRG_243t1:c.853T>C	NP_002038.2:p.Phe285Leu
NM_002047.3:c.853T>C	NP_002038.2:p.Phe285Leu
XM_006715686.1:c.484T>C	XP_006715749.1:p.Phe162Leu
XM_006715686.2:c.484T>C	XP_006715749.1:p.Phe162Leu
NM_002047.4:c.853T>C MANE Select	NP_002038.2:p.Phe285Leu