Canonical Allele Identifier: CA837506344

Gene: GARS1

Linked Data

• dbSNP Id: rs1396604978
• gnomAD v3: 7-30612512-TC-T
• gnomAD v4: 7-30612512-TC-T
• MyVariant Identifiers: chr7:g.30652129del (hg19) ; chr7:g.30612513del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612514del , CM000669.2:g.30612514del	GRCh38
NC_000007.13:g.30652130del , CM000669.1:g.30652130del	GRCh37
NC_000007.12:g.30618655del	NCBI36
NG_007942.1:g.22950del , LRG_243:g.22950del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1031+269del MANE Select	ENSP00000373918.3:n.1031+269del
ENST00000444666.6:c.1031+269del	ENSP00000415447.2:n.1031+269del
ENST00000470392.2:n.1121+269del
ENST00000478124.6:n.1094+269del
ENST00000485784.2:n.1110+269del
ENST00000674616.1:c.*745+269del	ENSP00000502408.1:n.*745+269del
ENST00000674643.1:c.1031+269del	ENSP00000501636.1:n.1031+269del
ENST00000674734.1:n.1527+269del
ENST00000674737.1:c.*369+269del	ENSP00000502464.1:n.*369+269del
ENST00000674807.1:c.1031+269del	ENSP00000502814.1:n.1031+269del
ENST00000674815.1:c.662+269del	ENSP00000502799.1:n.662+269del
ENST00000674851.1:c.662+269del	ENSP00000502451.1:n.662+269del
ENST00000674969.1:n.2904+269del
ENST00000675051.1:c.830+269del	ENSP00000502296.1:n.830+269del
ENST00000675529.1:c.*901+269del	ENSP00000501655.1:n.*901+269del
ENST00000675587.1:n.1047+269del
ENST00000675651.1:c.1031+269del	ENSP00000502513.1:n.1031+269del
ENST00000675693.1:c.863+269del	ENSP00000502174.1:n.863+269del
ENST00000675810.1:c.929+269del	ENSP00000502743.1:n.929+269del
ENST00000675859.1:c.1031+269del	ENSP00000502033.1:n.1031+269del
ENST00000675863.1:n.1039+269del
ENST00000675886.1:n.7071+269del
ENST00000676088.1:c.*973+269del	ENSP00000501884.1:n.*973+269del
ENST00000676140.1:c.1031+269del	ENSP00000502571.1:n.1031+269del
ENST00000676164.1:c.*482+269del	ENSP00000501986.1:n.*482+269del
ENST00000676210.1:c.*320+269del	ENSP00000502373.1:n.*320+269del
ENST00000676259.1:c.*463+269del	ENSP00000501980.1:n.*463+269del
ENST00000676403.1:c.1031+269del	ENSP00000502681.1:n.1031+269del
ENST00000389266.7:c.1031+269del	ENSP00000373918.3:n.1031+269del
ENST00000478124.5:n.1069+269del
NM_001316772.1:c.869+269del	NP_001303701.1:n.869+269del
NM_002047.2:c.1031+269del , LRG_243t1:c.1031+269del	NP_002038.2:n.1031+269del
NM_002047.3:c.1031+269del	NP_002038.2:n.1031+269del
XM_006715686.1:c.662+269del	XP_006715749.1:n.662+269del
XM_006715686.2:c.662+269del	XP_006715749.1:n.662+269del
NM_002047.4:c.1031+269del MANE Select	NP_002038.2:n.1031+269del