Canonical Allele Identifier: CA2682249119

Gene: GARS1

Linked Data

• gnomAD v4: 7-30609439-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609439G>T , CM000669.2:g.30609439G>T	GRCh38
NC_000007.13:g.30649055G>T , CM000669.1:g.30649055G>T	GRCh37
NC_000007.12:g.30615580G>T	NCBI36
NG_007942.1:g.19875G>T , LRG_243:g.19875G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.736-146G>T MANE Select	ENSP00000373918.3:n.736-146G>T
ENST00000444666.6:c.736-146G>T	ENSP00000415447.2:n.736-146G>T
ENST00000470392.2:n.826-146G>T
ENST00000478124.6:n.799-146G>T
ENST00000485784.2:n.815-146G>T
ENST00000674616.1:c.*450-146G>T	ENSP00000502408.1:n.*450-146G>T
ENST00000674643.1:c.736-146G>T	ENSP00000501636.1:n.736-146G>T
ENST00000674734.1:n.1232-146G>T
ENST00000674737.1:c.*74-146G>T	ENSP00000502464.1:n.*74-146G>T
ENST00000674807.1:c.736-146G>T	ENSP00000502814.1:n.736-146G>T
ENST00000674815.1:c.367-146G>T	ENSP00000502799.1:n.367-146G>T
ENST00000674851.1:c.367-146G>T	ENSP00000502451.1:n.367-146G>T
ENST00000674969.1:n.2609-146G>T
ENST00000675051.1:c.535-146G>T	ENSP00000502296.1:n.535-146G>T
ENST00000675529.1:c.*606-146G>T	ENSP00000501655.1:n.*606-146G>T
ENST00000675587.1:n.752-146G>T
ENST00000675651.1:c.736-146G>T	ENSP00000502513.1:n.736-146G>T
ENST00000675693.1:c.568-146G>T	ENSP00000502174.1:n.568-146G>T
ENST00000675810.1:c.634-146G>T	ENSP00000502743.1:n.634-146G>T
ENST00000675859.1:c.736-146G>T	ENSP00000502033.1:n.736-146G>T
ENST00000675863.1:n.744-146G>T
ENST00000675886.1:n.6630G>T
ENST00000676088.1:c.*678-146G>T	ENSP00000501884.1:n.*678-146G>T
ENST00000676140.1:c.736-146G>T	ENSP00000502571.1:n.736-146G>T
ENST00000676164.1:c.*187-146G>T	ENSP00000501986.1:n.*187-146G>T
ENST00000676210.1:c.*25-146G>T	ENSP00000502373.1:n.*25-146G>T
ENST00000676259.1:c.*168-146G>T	ENSP00000501980.1:n.*168-146G>T
ENST00000676403.1:c.736-146G>T	ENSP00000502681.1:n.736-146G>T
ENST00000389266.7:c.736-146G>T	ENSP00000373918.3:n.736-146G>T
ENST00000478124.5:n.774-146G>T
NM_001316772.1:c.574-146G>T	NP_001303701.1:n.574-146G>T
NM_002047.2:c.736-146G>T , LRG_243t1:c.736-146G>T	NP_002038.2:n.736-146G>T
NM_002047.3:c.736-146G>T	NP_002038.2:n.736-146G>T
XM_006715686.1:c.367-146G>T	XP_006715749.1:n.367-146G>T
XM_006715686.2:c.367-146G>T	XP_006715749.1:n.367-146G>T
NM_002047.4:c.736-146G>T MANE Select	NP_002038.2:n.736-146G>T