Canonical Allele Identifier: CA367124873

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30651732C>A (hg19) ; chr7:g.30612116C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612116C>A , CM000669.2:g.30612116C>A	GRCh38
NC_000007.13:g.30651732C>A , CM000669.1:g.30651732C>A	GRCh37
NC_000007.12:g.30618257C>A	NCBI36
NG_007942.1:g.22552C>A , LRG_243:g.22552C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.902C>A MANE Select	ENSP00000373918.3:p.Ala301Glu
ENST00000444666.6:c.902C>A	ENSP00000415447.2:p.Ala301Glu
ENST00000470392.2:n.992C>A
ENST00000478124.6:n.965C>A
ENST00000485784.2:n.981C>A
ENST00000674616.1:c.*616C>A	ENSP00000502408.1:n.*616C>A
ENST00000674643.1:c.902C>A	ENSP00000501636.1:p.Ala301Glu
ENST00000674734.1:n.1398C>A
ENST00000674737.1:c.*240C>A	ENSP00000502464.1:n.*240C>A
ENST00000674807.1:c.902C>A	ENSP00000502814.1:p.Ala301Glu
ENST00000674815.1:c.533C>A	ENSP00000502799.1:p.Ala178Glu
ENST00000674851.1:c.533C>A	ENSP00000502451.1:p.Ala178Glu
ENST00000674969.1:n.2775C>A
ENST00000675051.1:c.701C>A	ENSP00000502296.1:p.Ala234Glu
ENST00000675529.1:c.*772C>A	ENSP00000501655.1:n.*772C>A
ENST00000675587.1:n.918C>A
ENST00000675651.1:c.902C>A	ENSP00000502513.1:p.Ala301Glu
ENST00000675693.1:c.734C>A	ENSP00000502174.1:p.Ala245Glu
ENST00000675810.1:c.800C>A	ENSP00000502743.1:p.Ala267Glu
ENST00000675859.1:c.902C>A	ENSP00000502033.1:p.Ala301Glu
ENST00000675863.1:n.910C>A
ENST00000675886.1:n.6942C>A
ENST00000676088.1:c.*844C>A	ENSP00000501884.1:n.*844C>A
ENST00000676140.1:c.902C>A	ENSP00000502571.1:p.Ala301Glu
ENST00000676164.1:c.*353C>A	ENSP00000501986.1:n.*353C>A
ENST00000676210.1:c.*191C>A	ENSP00000502373.1:n.*191C>A
ENST00000676259.1:c.*334C>A	ENSP00000501980.1:n.*334C>A
ENST00000676403.1:c.902C>A	ENSP00000502681.1:p.Ala301Glu
ENST00000389266.7:c.902C>A	ENSP00000373918.3:p.Ala301Glu
ENST00000478124.5:n.940C>A
NM_001316772.1:c.740C>A	NP_001303701.1:p.Ala247Glu
NM_002047.2:c.902C>A , LRG_243t1:c.902C>A	NP_002038.2:p.Ala301Glu
NM_002047.3:c.902C>A	NP_002038.2:p.Ala301Glu
XM_006715686.1:c.533C>A	XP_006715749.1:p.Ala178Glu
XM_006715686.2:c.533C>A	XP_006715749.1:p.Ala178Glu
NM_002047.4:c.902C>A MANE Select	NP_002038.2:p.Ala301Glu