Canonical Allele Identifier: CA367124811
Gene: GARS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30612098A>T , CM000669.2:g.30612098A>T GRCh38
NC_000007.13:g.30651714A>T , CM000669.1:g.30651714A>T GRCh37
NC_000007.12:g.30618239A>T NCBI36
NG_007942.1:g.22534A>T , LRG_243:g.22534A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000389266.8:c.884A>T MANE Select ENSP00000373918.3:p.Tyr295Phe
ENST00000444666.6:c.884A>T ENSP00000415447.2:p.Tyr295Phe
ENST00000470392.2:n.974A>T
ENST00000478124.6:n.947A>T
ENST00000485784.2:n.963A>T
ENST00000674616.1:c.*598A>T ENSP00000502408.1:n.*598A>T
ENST00000674643.1:c.884A>T ENSP00000501636.1:p.Tyr295Phe
ENST00000674734.1:n.1380A>T
ENST00000674737.1:c.*222A>T ENSP00000502464.1:n.*222A>T
ENST00000674807.1:c.884A>T ENSP00000502814.1:p.Tyr295Phe
ENST00000674815.1:c.515A>T ENSP00000502799.1:p.Tyr172Phe
ENST00000674851.1:c.515A>T ENSP00000502451.1:p.Tyr172Phe
ENST00000674969.1:n.2757A>T
ENST00000675051.1:c.683A>T ENSP00000502296.1:p.Tyr228Phe
ENST00000675529.1:c.*754A>T ENSP00000501655.1:n.*754A>T
ENST00000675587.1:n.900A>T
ENST00000675651.1:c.884A>T ENSP00000502513.1:p.Tyr295Phe
ENST00000675693.1:c.716A>T ENSP00000502174.1:p.Tyr239Phe
ENST00000675810.1:c.782A>T ENSP00000502743.1:p.Tyr261Phe
ENST00000675859.1:c.884A>T ENSP00000502033.1:p.Tyr295Phe
ENST00000675863.1:n.892A>T
ENST00000675886.1:n.6924A>T
ENST00000676088.1:c.*826A>T ENSP00000501884.1:n.*826A>T
ENST00000676140.1:c.884A>T ENSP00000502571.1:p.Tyr295Phe
ENST00000676164.1:c.*335A>T ENSP00000501986.1:n.*335A>T
ENST00000676210.1:c.*173A>T ENSP00000502373.1:n.*173A>T
ENST00000676259.1:c.*316A>T ENSP00000501980.1:n.*316A>T
ENST00000676403.1:c.884A>T ENSP00000502681.1:p.Tyr295Phe
ENST00000389266.7:c.884A>T ENSP00000373918.3:p.Tyr295Phe
ENST00000478124.5:n.922A>T
NM_001316772.1:c.722A>T NP_001303701.1:p.Tyr241Phe
NM_002047.2:c.884A>T , LRG_243t1:c.884A>T NP_002038.2:p.Tyr295Phe
NM_002047.3:c.884A>T NP_002038.2:p.Tyr295Phe
XM_006715686.1:c.515A>T XP_006715749.1:p.Tyr172Phe
XM_006715686.2:c.515A>T XP_006715749.1:p.Tyr172Phe
NM_002047.4:c.884A>T MANE Select NP_002038.2:p.Tyr295Phe