Canonical Allele Identifier: CA156054804

Gene: GARS1

Linked Data

• dbSNP Id: rs534892695
• gnomAD v3: 7-30621215-T-C
• gnomAD v4: 7-30621215-T-C
• MyVariant Identifiers: chr7:g.30660831T>C (hg19) ; chr7:g.30621215T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30621215T>C , CM000669.2:g.30621215T>C	GRCh38
NC_000007.13:g.30660831T>C , CM000669.1:g.30660831T>C	GRCh37
NC_000007.12:g.30627356T>C	NCBI36
NG_007942.1:g.31651T>C , LRG_243:g.31651T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1360-178T>C MANE Select	ENSP00000373918.3:n.1360-178T>C
ENST00000444666.6:c.1360-178T>C	ENSP00000415447.2:n.1360-178T>C
ENST00000470392.2:n.1450-178T>C
ENST00000478124.6:n.1423-178T>C
ENST00000485784.2:n.1439-178T>C
ENST00000674616.1:c.*1074-178T>C	ENSP00000502408.1:n.*1074-178T>C
ENST00000674643.1:c.*460-178T>C	ENSP00000501636.1:n.*460-178T>C
ENST00000674734.1:n.1856-178T>C
ENST00000674737.1:c.*698-178T>C	ENSP00000502464.1:n.*698-178T>C
ENST00000674807.1:c.1360-178T>C	ENSP00000502814.1:n.1360-178T>C
ENST00000674815.1:c.991-178T>C	ENSP00000502799.1:n.991-178T>C
ENST00000674851.1:c.991-178T>C	ENSP00000502451.1:n.991-178T>C
ENST00000674969.1:n.3233-178T>C
ENST00000675051.1:c.1159-178T>C	ENSP00000502296.1:n.1159-178T>C
ENST00000675529.1:c.*1230-178T>C	ENSP00000501655.1:n.*1230-178T>C
ENST00000675587.1:n.1376-178T>C
ENST00000675651.1:c.1360-178T>C	ENSP00000502513.1:n.1360-178T>C
ENST00000675693.1:c.1192-178T>C	ENSP00000502174.1:n.1192-178T>C
ENST00000675810.1:c.1258-178T>C	ENSP00000502743.1:n.1258-178T>C
ENST00000675859.1:c.1360-178T>C	ENSP00000502033.1:n.1360-178T>C
ENST00000675863.1:n.1368-178T>C
ENST00000675886.1:n.7400-178T>C
ENST00000676088.1:c.*1302-178T>C	ENSP00000501884.1:n.*1302-178T>C
ENST00000676140.1:c.*305-178T>C	ENSP00000502571.1:n.*305-178T>C
ENST00000676164.1:c.*811-178T>C	ENSP00000501986.1:n.*811-178T>C
ENST00000676210.1:c.*649-178T>C	ENSP00000502373.1:n.*649-178T>C
ENST00000676259.1:c.*792-178T>C	ENSP00000501980.1:n.*792-178T>C
ENST00000676403.1:c.1360-178T>C	ENSP00000502681.1:n.1360-178T>C
ENST00000389266.7:c.1360-178T>C	ENSP00000373918.3:n.1360-178T>C
ENST00000478124.5:n.1398-178T>C
ENST00000484093.1:n.359-178T>C
NM_001316772.1:c.1198-178T>C	NP_001303701.1:n.1198-178T>C
NM_002047.2:c.1360-178T>C , LRG_243t1:c.1360-178T>C	NP_002038.2:n.1360-178T>C
NM_002047.3:c.1360-178T>C	NP_002038.2:n.1360-178T>C
XM_006715686.1:c.991-178T>C	XP_006715749.1:n.991-178T>C
XM_006715686.2:c.991-178T>C	XP_006715749.1:n.991-178T>C
NM_002047.4:c.1360-178T>C MANE Select	NP_002038.2:n.1360-178T>C