Canonical Allele Identifier: CA454518906

Gene: GARS1

Linked Data

• gnomAD v4: 7-30595119-T-A
• MyVariant Identifiers: chr7:g.30634735T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30595119T>A , CM000669.2:g.30595119T>A	GRCh38
NC_000007.13:g.30634735T>A , CM000669.1:g.30634735T>A	GRCh37
NC_000007.12:g.30601260T>A	NCBI36
NG_007942.1:g.5555T>A , LRG_243:g.5555T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.198T>A MANE Select	ENSP00000373918.3:p.Pro66=
ENST00000444666.6:c.198T>A	ENSP00000415447.2:p.Pro66=
ENST00000454308.6:c.198T>A	ENSP00000392677.2:p.Pro66=
ENST00000470392.2:n.288T>A
ENST00000478124.6:n.261T>A
ENST00000485784.2:n.277T>A
ENST00000674616.1:c.198T>A	ENSP00000502408.1:p.Pro66=
ENST00000674643.1:c.198T>A	ENSP00000501636.1:p.Pro66=
ENST00000674737.1:c.198T>A	ENSP00000502464.1:p.Pro66=
ENST00000674807.1:c.198T>A	ENSP00000502814.1:p.Pro66=
ENST00000674815.1:c.-148+167T>A	ENSP00000502799.1:n.-148+167T>A
ENST00000674851.1:c.-172T>A	ENSP00000502451.1:n.-172T>A
ENST00000674969.1:n.238T>A
ENST00000675051.1:c.22-3677T>A	ENSP00000502296.1:n.22-3677T>A
ENST00000675529.1:c.198T>A	ENSP00000501655.1:p.Pro66=
ENST00000675587.1:n.214T>A
ENST00000675651.1:c.198T>A	ENSP00000502513.1:p.Pro66=
ENST00000675693.1:c.30T>A	ENSP00000502174.1:p.Pro10=
ENST00000675810.1:c.198T>A	ENSP00000502743.1:p.Pro66=
ENST00000675859.1:c.198T>A	ENSP00000502033.1:p.Pro66=
ENST00000675863.1:n.206T>A
ENST00000675886.1:n.226T>A
ENST00000676088.1:c.198T>A	ENSP00000501884.1:p.Pro66=
ENST00000676140.1:c.198T>A	ENSP00000502571.1:p.Pro66=
ENST00000676164.1:c.198T>A	ENSP00000501986.1:p.Pro66=
ENST00000676210.1:c.198T>A	ENSP00000502373.1:p.Pro66=
ENST00000676259.1:c.198T>A	ENSP00000501980.1:p.Pro66=
ENST00000676403.1:c.198T>A	ENSP00000502681.1:p.Pro66=
ENST00000389266.7:c.198T>A	ENSP00000373918.3:p.Pro66=
ENST00000454308.5:c.198T>A	ENSP00000392677.1:p.Pro66=
ENST00000478124.5:n.236T>A
ENST00000627489.1:c.198T>A	ENSP00000485931.1:p.Pro66=
NM_001316772.1:c.36T>A	NP_001303701.1:p.Pro12=
NM_002047.2:c.198T>A , LRG_243t1:c.198T>A	NP_002038.2:p.Pro66=
NM_002047.3:c.198T>A	NP_002038.2:p.Pro66=
XM_006715686.2:c.-282T>A	XP_006715749.1:n.-282T>A
NM_002047.4:c.198T>A MANE Select	NP_002038.2:p.Pro66=