Canonical Allele Identifier: CA454256821

Gene: GARS1

Linked Data

• dbSNP Id: rs1287657671
• gnomAD v2: 7-30665904-C-A
• gnomAD v3: 7-30626288-C-A
• gnomAD v4: 7-30626288-C-A
• MyVariant Identifiers: chr7:g.30665904C>A (hg19) ; chr7:g.30626288C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30626288C>A , CM000669.2:g.30626288C>A	GRCh38
NC_000007.13:g.30665904C>A , CM000669.1:g.30665904C>A	GRCh37
NC_000007.12:g.30632429C>A	NCBI36
NG_007942.1:g.36724C>A , LRG_243:g.36724C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000389266.8:c.1668C>A MANE Select	ENSP00000373918.3:p.Ile556=
ENST00000444666.6:c.1668C>A	ENSP00000415447.2:p.Ile556=
ENST00000470392.2:n.1758C>A
ENST00000485784.2:n.1747C>A
ENST00000674616.1:c.*1382C>A	ENSP00000502408.1:n.*1382C>A
ENST00000674643.1:c.*768C>A	ENSP00000501636.1:n.*768C>A
ENST00000674737.1:c.*1006C>A	ENSP00000502464.1:n.*1006C>A
ENST00000674807.1:c.1614-2272C>A	ENSP00000502814.1:n.1614-2272C>A
ENST00000674815.1:c.1299C>A	ENSP00000502799.1:p.Ile433=
ENST00000674851.1:c.1299C>A	ENSP00000502451.1:p.Ile433=
ENST00000674969.1:n.3541C>A
ENST00000675051.1:c.1467C>A	ENSP00000502296.1:p.Ile489=
ENST00000675529.1:c.*1538C>A	ENSP00000501655.1:n.*1538C>A
ENST00000675587.1:n.2500C>A
ENST00000675651.1:c.1668C>A	ENSP00000502513.1:p.Ile556=
ENST00000675693.1:c.1500C>A	ENSP00000502174.1:p.Ile500=
ENST00000675810.1:c.1566C>A	ENSP00000502743.1:p.Ile522=
ENST00000675859.1:c.1614-2272C>A	ENSP00000502033.1:n.1614-2272C>A
ENST00000675863.1:n.1676C>A
ENST00000675886.1:n.7708C>A
ENST00000676088.1:c.*1610C>A	ENSP00000501884.1:n.*1610C>A
ENST00000676140.1:c.*613C>A	ENSP00000502571.1:n.*613C>A
ENST00000676164.1:c.*1119C>A	ENSP00000501986.1:n.*1119C>A
ENST00000676210.1:c.*957C>A	ENSP00000502373.1:n.*957C>A
ENST00000676259.1:c.*1100C>A	ENSP00000501980.1:n.*1100C>A
ENST00000676403.1:c.1668C>A	ENSP00000502681.1:p.Ile556=
ENST00000389266.7:c.1668C>A	ENSP00000373918.3:p.Ile556=
ENST00000444666.5:c.189C>A	ENSP00000415447.1:p.Ile63=
ENST00000470392.1:n.390C>A
NM_001316772.1:c.1506C>A	NP_001303701.1:p.Ile502=
NM_002047.2:c.1668C>A , LRG_243t1:c.1668C>A	NP_002038.2:p.Ile556=
NM_002047.3:c.1668C>A	NP_002038.2:p.Ile556=
XM_006715686.1:c.1299C>A	XP_006715749.1:p.Ile433=
XM_006715686.2:c.1299C>A	XP_006715749.1:p.Ile433=
NM_002047.4:c.1668C>A MANE Select	NP_002038.2:p.Ile556=