Canonical Allele Identifier: CA367124446

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30649275T>G (hg19) ; chr7:g.30609659T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609659T>G , CM000669.2:g.30609659T>G	GRCh38
NC_000007.13:g.30649275T>G , CM000669.1:g.30649275T>G	GRCh37
NC_000007.12:g.30615800T>G	NCBI36
NG_007942.1:g.20095T>G , LRG_243:g.20095T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.810T>G MANE Select	ENSP00000373918.3:p.Asn270Lys
ENST00000444666.6:c.810T>G	ENSP00000415447.2:p.Asn270Lys
ENST00000470392.2:n.900T>G
ENST00000478124.6:n.873T>G
ENST00000485784.2:n.889T>G
ENST00000674616.1:c.*524T>G	ENSP00000502408.1:n.*524T>G
ENST00000674643.1:c.810T>G	ENSP00000501636.1:p.Asn270Lys
ENST00000674734.1:n.1306T>G
ENST00000674737.1:c.*148T>G	ENSP00000502464.1:n.*148T>G
ENST00000674807.1:c.810T>G	ENSP00000502814.1:p.Asn270Lys
ENST00000674815.1:c.441T>G	ENSP00000502799.1:p.Asn147Lys
ENST00000674851.1:c.441T>G	ENSP00000502451.1:p.Asn147Lys
ENST00000674969.1:n.2683T>G
ENST00000675051.1:c.609T>G	ENSP00000502296.1:p.Asn203Lys
ENST00000675529.1:c.*680T>G	ENSP00000501655.1:n.*680T>G
ENST00000675587.1:n.826T>G
ENST00000675651.1:c.810T>G	ENSP00000502513.1:p.Asn270Lys
ENST00000675693.1:c.642T>G	ENSP00000502174.1:p.Asn214Lys
ENST00000675810.1:c.708T>G	ENSP00000502743.1:p.Asn236Lys
ENST00000675859.1:c.810T>G	ENSP00000502033.1:p.Asn270Lys
ENST00000675863.1:n.818T>G
ENST00000675886.1:n.6850T>G
ENST00000676088.1:c.*752T>G	ENSP00000501884.1:n.*752T>G
ENST00000676140.1:c.810T>G	ENSP00000502571.1:p.Asn270Lys
ENST00000676164.1:c.*261T>G	ENSP00000501986.1:n.*261T>G
ENST00000676210.1:c.*99T>G	ENSP00000502373.1:n.*99T>G
ENST00000676259.1:c.*242T>G	ENSP00000501980.1:n.*242T>G
ENST00000676403.1:c.810T>G	ENSP00000502681.1:p.Asn270Lys
ENST00000389266.7:c.810T>G	ENSP00000373918.3:p.Asn270Lys
ENST00000478124.5:n.848T>G
NM_001316772.1:c.648T>G	NP_001303701.1:p.Asn216Lys
NM_002047.2:c.810T>G , LRG_243t1:c.810T>G	NP_002038.2:p.Asn270Lys
NM_002047.3:c.810T>G	NP_002038.2:p.Asn270Lys
XM_006715686.1:c.441T>G	XP_006715749.1:p.Asn147Lys
XM_006715686.2:c.441T>G	XP_006715749.1:p.Asn147Lys
NM_002047.4:c.810T>G MANE Select	NP_002038.2:p.Asn270Lys