Canonical Allele Identifier: CA573453912

Gene: GARS1

Linked Data

• dbSNP Id: rs1355711666
• gnomAD v2: 7-30651595-C-CA
• gnomAD v3: 7-30611979-C-CA
• gnomAD v4: 7-30611979-C-CA
• MyVariant Identifiers: chr7:g.30651595_30651596insA (hg19) ; chr7:g.30611979_30611980insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30611981dup , CM000669.2:g.30611981dup	GRCh38
NC_000007.13:g.30651597dup , CM000669.1:g.30651597dup	GRCh37
NC_000007.12:g.30618122dup	NCBI36
NG_007942.1:g.22417dup , LRG_243:g.22417dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000389266.8:c.882-115dup MANE Select	ENSP00000373918.3:n.882-115dup
ENST00000444666.6:c.882-115dup	ENSP00000415447.2:n.882-115dup
ENST00000470392.2:n.972-115dup
ENST00000478124.6:n.945-115dup
ENST00000485784.2:n.961-115dup
ENST00000674616.1:c.*596-115dup	ENSP00000502408.1:n.*596-115dup
ENST00000674643.1:c.882-115dup	ENSP00000501636.1:n.882-115dup
ENST00000674734.1:n.1378-115dup
ENST00000674737.1:c.*220-115dup	ENSP00000502464.1:n.*220-115dup
ENST00000674807.1:c.882-115dup	ENSP00000502814.1:n.882-115dup
ENST00000674815.1:c.513-115dup	ENSP00000502799.1:n.513-115dup
ENST00000674851.1:c.513-115dup	ENSP00000502451.1:n.513-115dup
ENST00000674969.1:n.2755-115dup
ENST00000675051.1:c.681-115dup	ENSP00000502296.1:n.681-115dup
ENST00000675529.1:c.*752-115dup	ENSP00000501655.1:n.*752-115dup
ENST00000675587.1:n.898-115dup
ENST00000675651.1:c.882-115dup	ENSP00000502513.1:n.882-115dup
ENST00000675693.1:c.714-115dup	ENSP00000502174.1:n.714-115dup
ENST00000675810.1:c.780-115dup	ENSP00000502743.1:n.780-115dup
ENST00000675859.1:c.882-115dup	ENSP00000502033.1:n.882-115dup
ENST00000675863.1:n.890-115dup
ENST00000675886.1:n.6922-115dup
ENST00000676088.1:c.*824-115dup	ENSP00000501884.1:n.*824-115dup
ENST00000676140.1:c.882-115dup	ENSP00000502571.1:n.882-115dup
ENST00000676164.1:c.*333-115dup	ENSP00000501986.1:n.*333-115dup
ENST00000676210.1:c.*171-115dup	ENSP00000502373.1:n.*171-115dup
ENST00000676259.1:c.*314-115dup	ENSP00000501980.1:n.*314-115dup
ENST00000676403.1:c.882-115dup	ENSP00000502681.1:n.882-115dup
ENST00000389266.7:c.882-115dup	ENSP00000373918.3:n.882-115dup
ENST00000478124.5:n.920-115dup
NM_001316772.1:c.720-115dup	NP_001303701.1:n.720-115dup
NM_002047.2:c.882-115dup , LRG_243t1:c.882-115dup	NP_002038.2:n.882-115dup
NM_002047.3:c.882-115dup	NP_002038.2:n.882-115dup
XM_006715686.1:c.513-115dup	XP_006715749.1:n.513-115dup
XM_006715686.2:c.513-115dup	XP_006715749.1:n.513-115dup
NM_002047.4:c.882-115dup MANE Select	NP_002038.2:n.882-115dup