Canonical Allele Identifier: CA367124246

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30649244A>T (hg19) ; chr7:g.30609628A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609628A>T , CM000669.2:g.30609628A>T	GRCh38
NC_000007.13:g.30649244A>T , CM000669.1:g.30649244A>T	GRCh37
NC_000007.12:g.30615769A>T	NCBI36
NG_007942.1:g.20064A>T , LRG_243:g.20064A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.779A>T MANE Select	ENSP00000373918.3:p.Asn260Ile
ENST00000444666.6:c.779A>T	ENSP00000415447.2:p.Asn260Ile
ENST00000470392.2:n.869A>T
ENST00000478124.6:n.842A>T
ENST00000485784.2:n.858A>T
ENST00000674616.1:c.*493A>T	ENSP00000502408.1:n.*493A>T
ENST00000674643.1:c.779A>T	ENSP00000501636.1:p.Asn260Ile
ENST00000674734.1:n.1275A>T
ENST00000674737.1:c.*117A>T	ENSP00000502464.1:n.*117A>T
ENST00000674807.1:c.779A>T	ENSP00000502814.1:p.Asn260Ile
ENST00000674815.1:c.410A>T	ENSP00000502799.1:p.Asn137Ile
ENST00000674851.1:c.410A>T	ENSP00000502451.1:p.Asn137Ile
ENST00000674969.1:n.2652A>T
ENST00000675051.1:c.578A>T	ENSP00000502296.1:p.Asn193Ile
ENST00000675529.1:c.*649A>T	ENSP00000501655.1:n.*649A>T
ENST00000675587.1:n.795A>T
ENST00000675651.1:c.779A>T	ENSP00000502513.1:p.Asn260Ile
ENST00000675693.1:c.611A>T	ENSP00000502174.1:p.Asn204Ile
ENST00000675810.1:c.677A>T	ENSP00000502743.1:p.Asn226Ile
ENST00000675859.1:c.779A>T	ENSP00000502033.1:p.Asn260Ile
ENST00000675863.1:n.787A>T
ENST00000675886.1:n.6819A>T
ENST00000676088.1:c.*721A>T	ENSP00000501884.1:n.*721A>T
ENST00000676140.1:c.779A>T	ENSP00000502571.1:p.Asn260Ile
ENST00000676164.1:c.*230A>T	ENSP00000501986.1:n.*230A>T
ENST00000676210.1:c.*68A>T	ENSP00000502373.1:n.*68A>T
ENST00000676259.1:c.*211A>T	ENSP00000501980.1:n.*211A>T
ENST00000676403.1:c.779A>T	ENSP00000502681.1:p.Asn260Ile
ENST00000389266.7:c.779A>T	ENSP00000373918.3:p.Asn260Ile
ENST00000478124.5:n.817A>T
NM_001316772.1:c.617A>T	NP_001303701.1:p.Asn206Ile
NM_002047.2:c.779A>T , LRG_243t1:c.779A>T	NP_002038.2:p.Asn260Ile
NM_002047.3:c.779A>T	NP_002038.2:p.Asn260Ile
XM_006715686.1:c.410A>T	XP_006715749.1:p.Asn137Ile
XM_006715686.2:c.410A>T	XP_006715749.1:p.Asn137Ile
NM_002047.4:c.779A>T MANE Select	NP_002038.2:p.Asn260Ile