Canonical Allele Identifier: CA4205854

Gene: GARS1

Linked Data

• dbSNP Id: rs771835056
• ExAC: 7:30651736 G / C
• gnomAD v2: 7-30651736-G-C
• gnomAD v4: 7-30612120-G-C
• MyVariant Identifiers: chr7:g.30651736G>C (hg19) ; chr7:g.30612120G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612120G>C , CM000669.2:g.30612120G>C	GRCh38
NC_000007.13:g.30651736G>C , CM000669.1:g.30651736G>C	GRCh37
NC_000007.12:g.30618261G>C	NCBI36
NG_007942.1:g.22556G>C , LRG_243:g.22556G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.906G>C MANE Select	ENSP00000373918.3:p.Gln302His
ENST00000444666.6:c.906G>C	ENSP00000415447.2:p.Gln302His
ENST00000470392.2:n.996G>C
ENST00000478124.6:n.969G>C
ENST00000485784.2:n.985G>C
ENST00000674616.1:c.*620G>C	ENSP00000502408.1:n.*620G>C
ENST00000674643.1:c.906G>C	ENSP00000501636.1:p.Gln302His
ENST00000674734.1:n.1402G>C
ENST00000674737.1:c.*244G>C	ENSP00000502464.1:n.*244G>C
ENST00000674807.1:c.906G>C	ENSP00000502814.1:p.Gln302His
ENST00000674815.1:c.537G>C	ENSP00000502799.1:p.Gln179His
ENST00000674851.1:c.537G>C	ENSP00000502451.1:p.Gln179His
ENST00000674969.1:n.2779G>C
ENST00000675051.1:c.705G>C	ENSP00000502296.1:p.Gln235His
ENST00000675529.1:c.*776G>C	ENSP00000501655.1:n.*776G>C
ENST00000675587.1:n.922G>C
ENST00000675651.1:c.906G>C	ENSP00000502513.1:p.Gln302His
ENST00000675693.1:c.738G>C	ENSP00000502174.1:p.Gln246His
ENST00000675810.1:c.804G>C	ENSP00000502743.1:p.Gln268His
ENST00000675859.1:c.906G>C	ENSP00000502033.1:p.Gln302His
ENST00000675863.1:n.914G>C
ENST00000675886.1:n.6946G>C
ENST00000676088.1:c.*848G>C	ENSP00000501884.1:n.*848G>C
ENST00000676140.1:c.906G>C	ENSP00000502571.1:p.Gln302His
ENST00000676164.1:c.*357G>C	ENSP00000501986.1:n.*357G>C
ENST00000676210.1:c.*195G>C	ENSP00000502373.1:n.*195G>C
ENST00000676259.1:c.*338G>C	ENSP00000501980.1:n.*338G>C
ENST00000676403.1:c.906G>C	ENSP00000502681.1:p.Gln302His
ENST00000389266.7:c.906G>C	ENSP00000373918.3:p.Gln302His
ENST00000478124.5:n.944G>C
NM_001316772.1:c.744G>C	NP_001303701.1:p.Gln248His
NM_002047.2:c.906G>C , LRG_243t1:c.906G>C	NP_002038.2:p.Gln302His
NM_002047.3:c.906G>C	NP_002038.2:p.Gln302His
XM_006715686.1:c.537G>C	XP_006715749.1:p.Gln179His
XM_006715686.2:c.537G>C	XP_006715749.1:p.Gln179His
NM_002047.4:c.906G>C MANE Select	NP_002038.2:p.Gln302His