Canonical Allele Identifier: CA1099847226

Gene: GARS1

Linked Data

• dbSNP Id: rs1791549198
• gnomAD v3: 7-30609430-G-A
• gnomAD v4: 7-30609430-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609430G>A , CM000669.2:g.30609430G>A	GRCh38
NC_000007.13:g.30649046G>A , CM000669.1:g.30649046G>A	GRCh37
NC_000007.12:g.30615571G>A	NCBI36
NG_007942.1:g.19866G>A , LRG_243:g.19866G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000389266.8:c.736-155G>A MANE Select	ENSP00000373918.3:n.736-155G>A
ENST00000444666.6:c.736-155G>A	ENSP00000415447.2:n.736-155G>A
ENST00000470392.2:n.826-155G>A
ENST00000478124.6:n.799-155G>A
ENST00000485784.2:n.815-155G>A
ENST00000674616.1:c.*450-155G>A	ENSP00000502408.1:n.*450-155G>A
ENST00000674643.1:c.736-155G>A	ENSP00000501636.1:n.736-155G>A
ENST00000674734.1:n.1232-155G>A
ENST00000674737.1:c.*74-155G>A	ENSP00000502464.1:n.*74-155G>A
ENST00000674807.1:c.736-155G>A	ENSP00000502814.1:n.736-155G>A
ENST00000674815.1:c.367-155G>A	ENSP00000502799.1:n.367-155G>A
ENST00000674851.1:c.367-155G>A	ENSP00000502451.1:n.367-155G>A
ENST00000674969.1:n.2609-155G>A
ENST00000675051.1:c.535-155G>A	ENSP00000502296.1:n.535-155G>A
ENST00000675529.1:c.*606-155G>A	ENSP00000501655.1:n.*606-155G>A
ENST00000675587.1:n.752-155G>A
ENST00000675651.1:c.736-155G>A	ENSP00000502513.1:n.736-155G>A
ENST00000675693.1:c.568-155G>A	ENSP00000502174.1:n.568-155G>A
ENST00000675810.1:c.634-155G>A	ENSP00000502743.1:n.634-155G>A
ENST00000675859.1:c.736-155G>A	ENSP00000502033.1:n.736-155G>A
ENST00000675863.1:n.744-155G>A
ENST00000675886.1:n.6621G>A
ENST00000676088.1:c.*678-155G>A	ENSP00000501884.1:n.*678-155G>A
ENST00000676140.1:c.736-155G>A	ENSP00000502571.1:n.736-155G>A
ENST00000676164.1:c.*187-155G>A	ENSP00000501986.1:n.*187-155G>A
ENST00000676210.1:c.*25-155G>A	ENSP00000502373.1:n.*25-155G>A
ENST00000676259.1:c.*168-155G>A	ENSP00000501980.1:n.*168-155G>A
ENST00000676403.1:c.736-155G>A	ENSP00000502681.1:n.736-155G>A
ENST00000389266.7:c.736-155G>A	ENSP00000373918.3:n.736-155G>A
ENST00000478124.5:n.774-155G>A
NM_001316772.1:c.574-155G>A	NP_001303701.1:n.574-155G>A
NM_002047.2:c.736-155G>A , LRG_243t1:c.736-155G>A	NP_002038.2:n.736-155G>A
NM_002047.3:c.736-155G>A	NP_002038.2:n.736-155G>A
XM_006715686.1:c.367-155G>A	XP_006715749.1:n.367-155G>A
XM_006715686.2:c.367-155G>A	XP_006715749.1:n.367-155G>A
NM_002047.4:c.736-155G>A MANE Select	NP_002038.2:n.736-155G>A