Canonical Allele Identifier: CA367124611

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30649314G>T (hg19) ; chr7:g.30609698G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609698G>T , CM000669.2:g.30609698G>T	GRCh38
NC_000007.13:g.30649314G>T , CM000669.1:g.30649314G>T	GRCh37
NC_000007.12:g.30615839G>T	NCBI36
NG_007942.1:g.20134G>T , LRG_243:g.20134G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.849G>T MANE Select	ENSP00000373918.3:p.Lys283Asn
ENST00000444666.6:c.849G>T	ENSP00000415447.2:p.Lys283Asn
ENST00000470392.2:n.939G>T
ENST00000478124.6:n.912G>T
ENST00000485784.2:n.928G>T
ENST00000674616.1:c.*563G>T	ENSP00000502408.1:n.*563G>T
ENST00000674643.1:c.849G>T	ENSP00000501636.1:p.Lys283Asn
ENST00000674734.1:n.1345G>T
ENST00000674737.1:c.*187G>T	ENSP00000502464.1:n.*187G>T
ENST00000674807.1:c.849G>T	ENSP00000502814.1:p.Lys283Asn
ENST00000674815.1:c.480G>T	ENSP00000502799.1:p.Lys160Asn
ENST00000674851.1:c.480G>T	ENSP00000502451.1:p.Lys160Asn
ENST00000674969.1:n.2722G>T
ENST00000675051.1:c.648G>T	ENSP00000502296.1:p.Lys216Asn
ENST00000675529.1:c.*719G>T	ENSP00000501655.1:n.*719G>T
ENST00000675587.1:n.865G>T
ENST00000675651.1:c.849G>T	ENSP00000502513.1:p.Lys283Asn
ENST00000675693.1:c.681G>T	ENSP00000502174.1:p.Lys227Asn
ENST00000675810.1:c.747G>T	ENSP00000502743.1:p.Lys249Asn
ENST00000675859.1:c.849G>T	ENSP00000502033.1:p.Lys283Asn
ENST00000675863.1:n.857G>T
ENST00000675886.1:n.6889G>T
ENST00000676088.1:c.*791G>T	ENSP00000501884.1:n.*791G>T
ENST00000676140.1:c.849G>T	ENSP00000502571.1:p.Lys283Asn
ENST00000676164.1:c.*300G>T	ENSP00000501986.1:n.*300G>T
ENST00000676210.1:c.*138G>T	ENSP00000502373.1:n.*138G>T
ENST00000676259.1:c.*281G>T	ENSP00000501980.1:n.*281G>T
ENST00000676403.1:c.849G>T	ENSP00000502681.1:p.Lys283Asn
ENST00000389266.7:c.849G>T	ENSP00000373918.3:p.Lys283Asn
ENST00000478124.5:n.887G>T
NM_001316772.1:c.687G>T	NP_001303701.1:p.Lys229Asn
NM_002047.2:c.849G>T , LRG_243t1:c.849G>T	NP_002038.2:p.Lys283Asn
NM_002047.3:c.849G>T	NP_002038.2:p.Lys283Asn
XM_006715686.1:c.480G>T	XP_006715749.1:p.Lys160Asn
XM_006715686.2:c.480G>T	XP_006715749.1:p.Lys160Asn
NM_002047.4:c.849G>T MANE Select	NP_002038.2:p.Lys283Asn