Canonical Allele Identifier: CA367124874

Gene: GARS1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.902C>T MANE Select	ENSP00000373918.3:p.Ala301Val
ENST00000444666.6:c.902C>T	ENSP00000415447.2:p.Ala301Val
ENST00000470392.2:n.992C>T
ENST00000478124.6:n.965C>T
ENST00000485784.2:n.981C>T
ENST00000674616.1:c.*616C>T	ENSP00000502408.1:n.*616C>T
ENST00000674643.1:c.902C>T	ENSP00000501636.1:p.Ala301Val
ENST00000674734.1:n.1398C>T
ENST00000674737.1:c.*240C>T	ENSP00000502464.1:n.*240C>T
ENST00000674807.1:c.902C>T	ENSP00000502814.1:p.Ala301Val
ENST00000674815.1:c.533C>T	ENSP00000502799.1:p.Ala178Val
ENST00000674851.1:c.533C>T	ENSP00000502451.1:p.Ala178Val
ENST00000674969.1:n.2775C>T
ENST00000675051.1:c.701C>T	ENSP00000502296.1:p.Ala234Val
ENST00000675529.1:c.*772C>T	ENSP00000501655.1:n.*772C>T
ENST00000675587.1:n.918C>T
ENST00000675651.1:c.902C>T	ENSP00000502513.1:p.Ala301Val
ENST00000675693.1:c.734C>T	ENSP00000502174.1:p.Ala245Val
ENST00000675810.1:c.800C>T	ENSP00000502743.1:p.Ala267Val
ENST00000675859.1:c.902C>T	ENSP00000502033.1:p.Ala301Val
ENST00000675863.1:n.910C>T
ENST00000675886.1:n.6942C>T
ENST00000676088.1:c.*844C>T	ENSP00000501884.1:n.*844C>T
ENST00000676140.1:c.902C>T	ENSP00000502571.1:p.Ala301Val
ENST00000676164.1:c.*353C>T	ENSP00000501986.1:n.*353C>T
ENST00000676210.1:c.*191C>T	ENSP00000502373.1:n.*191C>T
ENST00000676259.1:c.*334C>T	ENSP00000501980.1:n.*334C>T
ENST00000676403.1:c.902C>T	ENSP00000502681.1:p.Ala301Val
ENST00000389266.7:c.902C>T	ENSP00000373918.3:p.Ala301Val
ENST00000478124.5:n.940C>T
NM_001316772.1:c.740C>T	NP_001303701.1:p.Ala247Val
NM_002047.2:c.902C>T , LRG_243t1:c.902C>T	NP_002038.2:p.Ala301Val
NM_002047.3:c.902C>T	NP_002038.2:p.Ala301Val
XM_006715686.1:c.533C>T	XP_006715749.1:p.Ala178Val
XM_006715686.2:c.533C>T	XP_006715749.1:p.Ala178Val
NM_002047.4:c.902C>T MANE Select	NP_002038.2:p.Ala301Val