Canonical Allele Identifier: CA367123993

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30649209C>A (hg19) ; chr7:g.30609593C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609593C>A , CM000669.2:g.30609593C>A	GRCh38
NC_000007.13:g.30649209C>A , CM000669.1:g.30649209C>A	GRCh37
NC_000007.12:g.30615734C>A	NCBI36
NG_007942.1:g.20029C>A , LRG_243:g.20029C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.744C>A MANE Select	ENSP00000373918.3:p.Asn248Lys
ENST00000444666.6:c.744C>A	ENSP00000415447.2:p.Asn248Lys
ENST00000470392.2:n.834C>A
ENST00000478124.6:n.807C>A
ENST00000485784.2:n.823C>A
ENST00000674616.1:c.*458C>A	ENSP00000502408.1:n.*458C>A
ENST00000674643.1:c.744C>A	ENSP00000501636.1:p.Asn248Lys
ENST00000674734.1:n.1240C>A
ENST00000674737.1:c.*82C>A	ENSP00000502464.1:n.*82C>A
ENST00000674807.1:c.744C>A	ENSP00000502814.1:p.Asn248Lys
ENST00000674815.1:c.375C>A	ENSP00000502799.1:p.Asn125Lys
ENST00000674851.1:c.375C>A	ENSP00000502451.1:p.Asn125Lys
ENST00000674969.1:n.2617C>A
ENST00000675051.1:c.543C>A	ENSP00000502296.1:p.Asn181Lys
ENST00000675529.1:c.*614C>A	ENSP00000501655.1:n.*614C>A
ENST00000675587.1:n.760C>A
ENST00000675651.1:c.744C>A	ENSP00000502513.1:p.Asn248Lys
ENST00000675693.1:c.576C>A	ENSP00000502174.1:p.Asn192Lys
ENST00000675810.1:c.642C>A	ENSP00000502743.1:p.Asn214Lys
ENST00000675859.1:c.744C>A	ENSP00000502033.1:p.Asn248Lys
ENST00000675863.1:n.752C>A
ENST00000675886.1:n.6784C>A
ENST00000676088.1:c.*686C>A	ENSP00000501884.1:n.*686C>A
ENST00000676140.1:c.744C>A	ENSP00000502571.1:p.Asn248Lys
ENST00000676164.1:c.*195C>A	ENSP00000501986.1:n.*195C>A
ENST00000676210.1:c.*33C>A	ENSP00000502373.1:n.*33C>A
ENST00000676259.1:c.*176C>A	ENSP00000501980.1:n.*176C>A
ENST00000676403.1:c.744C>A	ENSP00000502681.1:p.Asn248Lys
ENST00000389266.7:c.744C>A	ENSP00000373918.3:p.Asn248Lys
ENST00000478124.5:n.782C>A
NM_001316772.1:c.582C>A	NP_001303701.1:p.Asn194Lys
NM_002047.2:c.744C>A , LRG_243t1:c.744C>A	NP_002038.2:p.Asn248Lys
NM_002047.3:c.744C>A	NP_002038.2:p.Asn248Lys
XM_006715686.1:c.375C>A	XP_006715749.1:p.Asn125Lys
XM_006715686.2:c.375C>A	XP_006715749.1:p.Asn125Lys
NM_002047.4:c.744C>A MANE Select	NP_002038.2:p.Asn248Lys