Canonical Allele Identifier: CA367124521

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30649294T>G (hg19) ; chr7:g.30609678T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609678T>G , CM000669.2:g.30609678T>G	GRCh38
NC_000007.13:g.30649294T>G , CM000669.1:g.30649294T>G	GRCh37
NC_000007.12:g.30615819T>G	NCBI36
NG_007942.1:g.20114T>G , LRG_243:g.20114T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.829T>G MANE Select	ENSP00000373918.3:p.Ser277Ala
ENST00000444666.6:c.829T>G	ENSP00000415447.2:p.Ser277Ala
ENST00000470392.2:n.919T>G
ENST00000478124.6:n.892T>G
ENST00000485784.2:n.908T>G
ENST00000674616.1:c.*543T>G	ENSP00000502408.1:n.*543T>G
ENST00000674643.1:c.829T>G	ENSP00000501636.1:p.Ser277Ala
ENST00000674734.1:n.1325T>G
ENST00000674737.1:c.*167T>G	ENSP00000502464.1:n.*167T>G
ENST00000674807.1:c.829T>G	ENSP00000502814.1:p.Ser277Ala
ENST00000674815.1:c.460T>G	ENSP00000502799.1:p.Ser154Ala
ENST00000674851.1:c.460T>G	ENSP00000502451.1:p.Ser154Ala
ENST00000674969.1:n.2702T>G
ENST00000675051.1:c.628T>G	ENSP00000502296.1:p.Ser210Ala
ENST00000675529.1:c.*699T>G	ENSP00000501655.1:n.*699T>G
ENST00000675587.1:n.845T>G
ENST00000675651.1:c.829T>G	ENSP00000502513.1:p.Ser277Ala
ENST00000675693.1:c.661T>G	ENSP00000502174.1:p.Ser221Ala
ENST00000675810.1:c.727T>G	ENSP00000502743.1:p.Ser243Ala
ENST00000675859.1:c.829T>G	ENSP00000502033.1:p.Ser277Ala
ENST00000675863.1:n.837T>G
ENST00000675886.1:n.6869T>G
ENST00000676088.1:c.*771T>G	ENSP00000501884.1:n.*771T>G
ENST00000676140.1:c.829T>G	ENSP00000502571.1:p.Ser277Ala
ENST00000676164.1:c.*280T>G	ENSP00000501986.1:n.*280T>G
ENST00000676210.1:c.*118T>G	ENSP00000502373.1:n.*118T>G
ENST00000676259.1:c.*261T>G	ENSP00000501980.1:n.*261T>G
ENST00000676403.1:c.829T>G	ENSP00000502681.1:p.Ser277Ala
ENST00000389266.7:c.829T>G	ENSP00000373918.3:p.Ser277Ala
ENST00000478124.5:n.867T>G
NM_001316772.1:c.667T>G	NP_001303701.1:p.Ser223Ala
NM_002047.2:c.829T>G , LRG_243t1:c.829T>G	NP_002038.2:p.Ser277Ala
NM_002047.3:c.829T>G	NP_002038.2:p.Ser277Ala
XM_006715686.1:c.460T>G	XP_006715749.1:p.Ser154Ala
XM_006715686.2:c.460T>G	XP_006715749.1:p.Ser154Ala
NM_002047.4:c.829T>G MANE Select	NP_002038.2:p.Ser277Ala