Canonical Allele Identifier: CA1697811225
Gene: GARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30612219C= , CM000669.2:g.30612219C= GRCh38
NC_000007.13:g.30651835C= , CM000669.1:g.30651835C= GRCh37
NC_000007.12:g.30618360C= NCBI36
NG_007942.1:g.22655C= , LRG_243:g.22655C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000389266.8:c.1005C= MANE Select ENSP00000373918.3:p.Ser335=
ENST00000444666.6:c.1005C= ENSP00000415447.2:p.Ser335=
ENST00000470392.2:n.1095C=
ENST00000478124.6:n.1068C=
ENST00000485784.2:n.1084C=
ENST00000674616.1:c.*719C= ENSP00000502408.1:n.*719C=
ENST00000674643.1:c.1005C= ENSP00000501636.1:p.Ser335=
ENST00000674734.1:n.1501C=
ENST00000674737.1:c.*343C= ENSP00000502464.1:n.*343C=
ENST00000674807.1:c.1005C= ENSP00000502814.1:p.Ser335=
ENST00000674815.1:c.636C= ENSP00000502799.1:p.Ser212=
ENST00000674851.1:c.636C= ENSP00000502451.1:p.Ser212=
ENST00000674969.1:n.2878C=
ENST00000675051.1:c.804C= ENSP00000502296.1:p.Ser268=
ENST00000675529.1:c.*875C= ENSP00000501655.1:n.*875C=
ENST00000675587.1:n.1021C=
ENST00000675651.1:c.1005C= ENSP00000502513.1:p.Ser335=
ENST00000675693.1:c.837C= ENSP00000502174.1:p.Ser279=
ENST00000675810.1:c.903C= ENSP00000502743.1:p.Ser301=
ENST00000675859.1:c.1005C= ENSP00000502033.1:p.Ser335=
ENST00000675863.1:n.1013C=
ENST00000675886.1:n.7045C=
ENST00000676088.1:c.*947C= ENSP00000501884.1:n.*947C=
ENST00000676140.1:c.1005C= ENSP00000502571.1:p.Ser335=
ENST00000676164.1:c.*456C= ENSP00000501986.1:n.*456C=
ENST00000676210.1:c.*294C= ENSP00000502373.1:n.*294C=
ENST00000676259.1:c.*437C= ENSP00000501980.1:n.*437C=
ENST00000676403.1:c.1005C= ENSP00000502681.1:p.Ser335=
ENST00000389266.7:c.1005C= ENSP00000373918.3:p.Ser335=
ENST00000478124.5:n.1043C=
NM_001316772.1:c.843C= NP_001303701.1:p.Ser281=
NM_002047.2:c.1005C= , LRG_243t1:c.1005C= NP_002038.2:p.Ser335=
NM_002047.3:c.1005C= NP_002038.2:p.Ser335=
XM_006715686.1:c.636C= XP_006715749.1:p.Ser212=
XM_006715686.2:c.636C= XP_006715749.1:p.Ser212=
NM_002047.4:c.1005C= MANE Select NP_002038.2:p.Ser335=