Canonical Allele Identifier: CA2682249222

Gene: GARS1

Linked Data

• gnomAD v4: 7-30609528-A-ATATCT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609532_30609536dup , CM000669.2:g.30609532_30609536dup	GRCh38
NC_000007.13:g.30649148_30649152dup , CM000669.1:g.30649148_30649152dup	GRCh37
NC_000007.12:g.30615673_30615677dup	NCBI36
NG_007942.1:g.19968_19972dup , LRG_243:g.19968_19972dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.736-53_736-49dup MANE Select	ENSP00000373918.3:n.736-53_736-49dup
ENST00000444666.6:c.736-53_736-49dup	ENSP00000415447.2:n.736-53_736-49dup
ENST00000470392.2:n.826-53_826-49dup
ENST00000478124.6:n.799-53_799-49dup
ENST00000485784.2:n.815-53_815-49dup
ENST00000674616.1:c.*450-53_*450-49dup	ENSP00000502408.1:n.*450-53_*450-49dup
ENST00000674643.1:c.736-53_736-49dup	ENSP00000501636.1:n.736-53_736-49dup
ENST00000674734.1:n.1232-53_1232-49dup
ENST00000674737.1:c.*74-53_*74-49dup	ENSP00000502464.1:n.*74-53_*74-49dup
ENST00000674807.1:c.736-53_736-49dup	ENSP00000502814.1:n.736-53_736-49dup
ENST00000674815.1:c.367-53_367-49dup	ENSP00000502799.1:n.367-53_367-49dup
ENST00000674851.1:c.367-53_367-49dup	ENSP00000502451.1:n.367-53_367-49dup
ENST00000674969.1:n.2609-53_2609-49dup
ENST00000675051.1:c.535-53_535-49dup	ENSP00000502296.1:n.535-53_535-49dup
ENST00000675529.1:c.*606-53_*606-49dup	ENSP00000501655.1:n.*606-53_*606-49dup
ENST00000675587.1:n.752-53_752-49dup
ENST00000675651.1:c.736-53_736-49dup	ENSP00000502513.1:n.736-53_736-49dup
ENST00000675693.1:c.568-53_568-49dup	ENSP00000502174.1:n.568-53_568-49dup
ENST00000675810.1:c.634-53_634-49dup	ENSP00000502743.1:n.634-53_634-49dup
ENST00000675859.1:c.736-53_736-49dup	ENSP00000502033.1:n.736-53_736-49dup
ENST00000675863.1:n.744-53_744-49dup
ENST00000675886.1:n.6723_6727dup
ENST00000676088.1:c.*678-53_*678-49dup	ENSP00000501884.1:n.*678-53_*678-49dup
ENST00000676140.1:c.736-53_736-49dup	ENSP00000502571.1:n.736-53_736-49dup
ENST00000676164.1:c.*187-53_*187-49dup	ENSP00000501986.1:n.*187-53_*187-49dup
ENST00000676210.1:c.*25-53_*25-49dup	ENSP00000502373.1:n.*25-53_*25-49dup
ENST00000676259.1:c.*168-53_*168-49dup	ENSP00000501980.1:n.*168-53_*168-49dup
ENST00000676403.1:c.736-53_736-49dup	ENSP00000502681.1:n.736-53_736-49dup
ENST00000389266.7:c.736-53_736-49dup	ENSP00000373918.3:n.736-53_736-49dup
ENST00000478124.5:n.774-53_774-49dup
NM_001316772.1:c.574-53_574-49dup	NP_001303701.1:n.574-53_574-49dup
NM_002047.2:c.736-53_736-49dup , LRG_243t1:c.736-53_736-49dup	NP_002038.2:n.736-53_736-49dup
NM_002047.3:c.736-53_736-49dup	NP_002038.2:n.736-53_736-49dup
XM_006715686.1:c.367-53_367-49dup	XP_006715749.1:n.367-53_367-49dup
XM_006715686.2:c.367-53_367-49dup	XP_006715749.1:n.367-53_367-49dup
NM_002047.4:c.736-53_736-49dup MANE Select	NP_002038.2:n.736-53_736-49dup