Canonical Allele Identifier: CA454256562
Gene: GARS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.30665819C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30626203C>G , CM000669.2:g.30626203C>G GRCh38
NC_000007.13:g.30665819C>G , CM000669.1:g.30665819C>G GRCh37
NC_000007.12:g.30632344C>G NCBI36
NG_007942.1:g.36639C>G , LRG_243:g.36639C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000389266.8:c.1614-31C>G MANE Select ENSP00000373918.3:n.1614-31C>G
ENST00000444666.6:c.1614-31C>G ENSP00000415447.2:n.1614-31C>G
ENST00000470392.2:n.1704-31C>G
ENST00000485784.2:n.1693-31C>G
ENST00000674616.1:c.*1328-31C>G ENSP00000502408.1:n.*1328-31C>G
ENST00000674643.1:c.*714-31C>G ENSP00000501636.1:n.*714-31C>G
ENST00000674737.1:c.*952-31C>G ENSP00000502464.1:n.*952-31C>G
ENST00000674807.1:c.1614-2357C>G ENSP00000502814.1:n.1614-2357C>G
ENST00000674815.1:c.1245-31C>G ENSP00000502799.1:n.1245-31C>G
ENST00000674851.1:c.1245-31C>G ENSP00000502451.1:n.1245-31C>G
ENST00000674969.1:n.3487-31C>G
ENST00000675051.1:c.1413-31C>G ENSP00000502296.1:n.1413-31C>G
ENST00000675529.1:c.*1484-31C>G ENSP00000501655.1:n.*1484-31C>G
ENST00000675587.1:n.2446-31C>G
ENST00000675651.1:c.1614-31C>G ENSP00000502513.1:n.1614-31C>G
ENST00000675693.1:c.1446-31C>G ENSP00000502174.1:n.1446-31C>G
ENST00000675810.1:c.1512-31C>G ENSP00000502743.1:n.1512-31C>G
ENST00000675859.1:c.1614-2357C>G ENSP00000502033.1:n.1614-2357C>G
ENST00000675863.1:n.1622-31C>G
ENST00000675886.1:n.7654-31C>G
ENST00000676088.1:c.*1556-31C>G ENSP00000501884.1:n.*1556-31C>G
ENST00000676140.1:c.*559-31C>G ENSP00000502571.1:n.*559-31C>G
ENST00000676164.1:c.*1065-31C>G ENSP00000501986.1:n.*1065-31C>G
ENST00000676210.1:c.*903-31C>G ENSP00000502373.1:n.*903-31C>G
ENST00000676259.1:c.*1046-31C>G ENSP00000501980.1:n.*1046-31C>G
ENST00000676403.1:c.1614-31C>G ENSP00000502681.1:n.1614-31C>G
ENST00000389266.7:c.1614-31C>G ENSP00000373918.3:n.1614-31C>G
ENST00000444666.5:c.135-31C>G ENSP00000415447.1:n.135-31C>G
ENST00000470392.1:n.336-31C>G
NM_001316772.1:c.1452-31C>G NP_001303701.1:n.1452-31C>G
NM_002047.2:c.1614-31C>G , LRG_243t1:c.1614-31C>G NP_002038.2:n.1614-31C>G
NM_002047.3:c.1614-31C>G NP_002038.2:n.1614-31C>G
XM_006715686.1:c.1245-31C>G XP_006715749.1:n.1245-31C>G
XM_006715686.2:c.1245-31C>G XP_006715749.1:n.1245-31C>G
NM_002047.4:c.1614-31C>G MANE Select NP_002038.2:n.1614-31C>G