Canonical Allele Identifier: CA837504570

Gene: GARS1

Linked Data

• dbSNP Id: rs1197741418
• gnomAD v3: 7-30609666-TC-T
• gnomAD v4: 7-30609666-TC-T
• MyVariant Identifiers: chr7:g.30649283del (hg19) ; chr7:g.30609667del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609670del , CM000669.2:g.30609670del	GRCh38
NC_000007.13:g.30649286del , CM000669.1:g.30649286del	GRCh37
NC_000007.12:g.30615811del	NCBI36
NG_007942.1:g.20106del , LRG_243:g.20106del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.821del MANE Select	ENSP00000373918.3:p.Pro274LeufsTer7
ENST00000444666.6:c.821del	ENSP00000415447.2:p.Pro274LeufsTer7
ENST00000470392.2:n.911del
ENST00000478124.6:n.884del
ENST00000485784.2:n.900del
ENST00000674616.1:c.*535del	ENSP00000502408.1:n.*535del
ENST00000674643.1:c.821del	ENSP00000501636.1:p.Pro274LeufsTer7
ENST00000674734.1:n.1317del
ENST00000674737.1:c.*159del	ENSP00000502464.1:n.*159del
ENST00000674807.1:c.821del	ENSP00000502814.1:p.Pro274LeufsTer7
ENST00000674815.1:c.452del	ENSP00000502799.1:p.Pro151LeufsTer7
ENST00000674851.1:c.452del	ENSP00000502451.1:p.Pro151LeufsTer7
ENST00000674969.1:n.2694del
ENST00000675051.1:c.620del	ENSP00000502296.1:p.Pro207LeufsTer7
ENST00000675529.1:c.*691del	ENSP00000501655.1:n.*691del
ENST00000675587.1:n.837del
ENST00000675651.1:c.821del	ENSP00000502513.1:p.Pro274LeufsTer7
ENST00000675693.1:c.653del	ENSP00000502174.1:p.Pro218LeufsTer7
ENST00000675810.1:c.719del	ENSP00000502743.1:p.Pro240LeufsTer7
ENST00000675859.1:c.821del	ENSP00000502033.1:p.Pro274LeufsTer7
ENST00000675863.1:n.829del
ENST00000675886.1:n.6861del
ENST00000676088.1:c.*763del	ENSP00000501884.1:n.*763del
ENST00000676140.1:c.821del	ENSP00000502571.1:p.Pro274LeufsTer7
ENST00000676164.1:c.*272del	ENSP00000501986.1:n.*272del
ENST00000676210.1:c.*110del	ENSP00000502373.1:n.*110del
ENST00000676259.1:c.*253del	ENSP00000501980.1:n.*253del
ENST00000676403.1:c.821del	ENSP00000502681.1:p.Pro274LeufsTer7
ENST00000389266.7:c.821del	ENSP00000373918.3:p.Pro274LeufsTer7
ENST00000478124.5:n.859del
NM_001316772.1:c.659del	NP_001303701.1:p.Pro220LeufsTer7
NM_002047.2:c.821del , LRG_243t1:c.821del	NP_002038.2:p.Pro274LeufsTer7
NM_002047.3:c.821del	NP_002038.2:p.Pro274LeufsTer7
XM_006715686.1:c.452del	XP_006715749.1:p.Pro151LeufsTer7
XM_006715686.2:c.452del	XP_006715749.1:p.Pro151LeufsTer7
NM_002047.4:c.821del MANE Select	NP_002038.2:p.Pro274LeufsTer7