Canonical Allele Identifier: CA367124482
Gene: GARS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 543165
ClinVar RCV Id: RCV000653833
dbSNP Id: rs1554337983
gnomAD v4: 7-30609667-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30609667C>T , CM000669.2:g.30609667C>T GRCh38
NC_000007.13:g.30649283C>T , CM000669.1:g.30649283C>T GRCh37
NC_000007.12:g.30615808C>T NCBI36
NG_007942.1:g.20103C>T , LRG_243:g.20103C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389266.8:c.818C>T MANE Select ENSP00000373918.3:p.Ser273Phe
ENST00000444666.6:c.818C>T ENSP00000415447.2:p.Ser273Phe
ENST00000470392.2:n.908C>T
ENST00000478124.6:n.881C>T
ENST00000485784.2:n.897C>T
ENST00000674616.1:c.*532C>T ENSP00000502408.1:n.*532C>T
ENST00000674643.1:c.818C>T ENSP00000501636.1:p.Ser273Phe
ENST00000674734.1:n.1314C>T
ENST00000674737.1:c.*156C>T ENSP00000502464.1:n.*156C>T
ENST00000674807.1:c.818C>T ENSP00000502814.1:p.Ser273Phe
ENST00000674815.1:c.449C>T ENSP00000502799.1:p.Ser150Phe
ENST00000674851.1:c.449C>T ENSP00000502451.1:p.Ser150Phe
ENST00000674969.1:n.2691C>T
ENST00000675051.1:c.617C>T ENSP00000502296.1:p.Ser206Phe
ENST00000675529.1:c.*688C>T ENSP00000501655.1:n.*688C>T
ENST00000675587.1:n.834C>T
ENST00000675651.1:c.818C>T ENSP00000502513.1:p.Ser273Phe
ENST00000675693.1:c.650C>T ENSP00000502174.1:p.Ser217Phe
ENST00000675810.1:c.716C>T ENSP00000502743.1:p.Ser239Phe
ENST00000675859.1:c.818C>T ENSP00000502033.1:p.Ser273Phe
ENST00000675863.1:n.826C>T
ENST00000675886.1:n.6858C>T
ENST00000676088.1:c.*760C>T ENSP00000501884.1:n.*760C>T
ENST00000676140.1:c.818C>T ENSP00000502571.1:p.Ser273Phe
ENST00000676164.1:c.*269C>T ENSP00000501986.1:n.*269C>T
ENST00000676210.1:c.*107C>T ENSP00000502373.1:n.*107C>T
ENST00000676259.1:c.*250C>T ENSP00000501980.1:n.*250C>T
ENST00000676403.1:c.818C>T ENSP00000502681.1:p.Ser273Phe
ENST00000389266.7:c.818C>T ENSP00000373918.3:p.Ser273Phe
ENST00000478124.5:n.856C>T
NM_001316772.1:c.656C>T NP_001303701.1:p.Ser219Phe
NM_002047.2:c.818C>T , LRG_243t1:c.818C>T NP_002038.2:p.Ser273Phe
NM_002047.3:c.818C>T NP_002038.2:p.Ser273Phe
XM_006715686.1:c.449C>T XP_006715749.1:p.Ser150Phe
XM_006715686.2:c.449C>T XP_006715749.1:p.Ser150Phe
NM_002047.4:c.818C>T MANE Select NP_002038.2:p.Ser273Phe