Canonical Allele Identifier: CA454246796

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30649260T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609644T>A , CM000669.2:g.30609644T>A	GRCh38
NC_000007.13:g.30649260T>A , CM000669.1:g.30649260T>A	GRCh37
NC_000007.12:g.30615785T>A	NCBI36
NG_007942.1:g.20080T>A , LRG_243:g.20080T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.795T>A MANE Select	ENSP00000373918.3:p.Ser265=
ENST00000444666.6:c.795T>A	ENSP00000415447.2:p.Ser265=
ENST00000470392.2:n.885T>A
ENST00000478124.6:n.858T>A
ENST00000485784.2:n.874T>A
ENST00000674616.1:c.*509T>A	ENSP00000502408.1:n.*509T>A
ENST00000674643.1:c.795T>A	ENSP00000501636.1:p.Ser265=
ENST00000674734.1:n.1291T>A
ENST00000674737.1:c.*133T>A	ENSP00000502464.1:n.*133T>A
ENST00000674807.1:c.795T>A	ENSP00000502814.1:p.Ser265=
ENST00000674815.1:c.426T>A	ENSP00000502799.1:p.Ser142=
ENST00000674851.1:c.426T>A	ENSP00000502451.1:p.Ser142=
ENST00000674969.1:n.2668T>A
ENST00000675051.1:c.594T>A	ENSP00000502296.1:p.Ser198=
ENST00000675529.1:c.*665T>A	ENSP00000501655.1:n.*665T>A
ENST00000675587.1:n.811T>A
ENST00000675651.1:c.795T>A	ENSP00000502513.1:p.Ser265=
ENST00000675693.1:c.627T>A	ENSP00000502174.1:p.Ser209=
ENST00000675810.1:c.693T>A	ENSP00000502743.1:p.Ser231=
ENST00000675859.1:c.795T>A	ENSP00000502033.1:p.Ser265=
ENST00000675863.1:n.803T>A
ENST00000675886.1:n.6835T>A
ENST00000676088.1:c.*737T>A	ENSP00000501884.1:n.*737T>A
ENST00000676140.1:c.795T>A	ENSP00000502571.1:p.Ser265=
ENST00000676164.1:c.*246T>A	ENSP00000501986.1:n.*246T>A
ENST00000676210.1:c.*84T>A	ENSP00000502373.1:n.*84T>A
ENST00000676259.1:c.*227T>A	ENSP00000501980.1:n.*227T>A
ENST00000676403.1:c.795T>A	ENSP00000502681.1:p.Ser265=
ENST00000389266.7:c.795T>A	ENSP00000373918.3:p.Ser265=
ENST00000478124.5:n.833T>A
NM_001316772.1:c.633T>A	NP_001303701.1:p.Ser211=
NM_002047.2:c.795T>A , LRG_243t1:c.795T>A	NP_002038.2:p.Ser265=
NM_002047.3:c.795T>A	NP_002038.2:p.Ser265=
XM_006715686.1:c.426T>A	XP_006715749.1:p.Ser142=
XM_006715686.2:c.426T>A	XP_006715749.1:p.Ser142=
NM_002047.4:c.795T>A MANE Select	NP_002038.2:p.Ser265=