Canonical Allele Identifier: CA367124449

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30649276G>C (hg19) ; chr7:g.30609660G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609660G>C , CM000669.2:g.30609660G>C	GRCh38
NC_000007.13:g.30649276G>C , CM000669.1:g.30649276G>C	GRCh37
NC_000007.12:g.30615801G>C	NCBI36
NG_007942.1:g.20096G>C , LRG_243:g.20096G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.811G>C MANE Select	ENSP00000373918.3:p.Asp271His
ENST00000444666.6:c.811G>C	ENSP00000415447.2:p.Asp271His
ENST00000470392.2:n.901G>C
ENST00000478124.6:n.874G>C
ENST00000485784.2:n.890G>C
ENST00000674616.1:c.*525G>C	ENSP00000502408.1:n.*525G>C
ENST00000674643.1:c.811G>C	ENSP00000501636.1:p.Asp271His
ENST00000674734.1:n.1307G>C
ENST00000674737.1:c.*149G>C	ENSP00000502464.1:n.*149G>C
ENST00000674807.1:c.811G>C	ENSP00000502814.1:p.Asp271His
ENST00000674815.1:c.442G>C	ENSP00000502799.1:p.Asp148His
ENST00000674851.1:c.442G>C	ENSP00000502451.1:p.Asp148His
ENST00000674969.1:n.2684G>C
ENST00000675051.1:c.610G>C	ENSP00000502296.1:p.Asp204His
ENST00000675529.1:c.*681G>C	ENSP00000501655.1:n.*681G>C
ENST00000675587.1:n.827G>C
ENST00000675651.1:c.811G>C	ENSP00000502513.1:p.Asp271His
ENST00000675693.1:c.643G>C	ENSP00000502174.1:p.Asp215His
ENST00000675810.1:c.709G>C	ENSP00000502743.1:p.Asp237His
ENST00000675859.1:c.811G>C	ENSP00000502033.1:p.Asp271His
ENST00000675863.1:n.819G>C
ENST00000675886.1:n.6851G>C
ENST00000676088.1:c.*753G>C	ENSP00000501884.1:n.*753G>C
ENST00000676140.1:c.811G>C	ENSP00000502571.1:p.Asp271His
ENST00000676164.1:c.*262G>C	ENSP00000501986.1:n.*262G>C
ENST00000676210.1:c.*100G>C	ENSP00000502373.1:n.*100G>C
ENST00000676259.1:c.*243G>C	ENSP00000501980.1:n.*243G>C
ENST00000676403.1:c.811G>C	ENSP00000502681.1:p.Asp271His
ENST00000389266.7:c.811G>C	ENSP00000373918.3:p.Asp271His
ENST00000478124.5:n.849G>C
NM_001316772.1:c.649G>C	NP_001303701.1:p.Asp217His
NM_002047.2:c.811G>C , LRG_243t1:c.811G>C	NP_002038.2:p.Asp271His
NM_002047.3:c.811G>C	NP_002038.2:p.Asp271His
XM_006715686.1:c.442G>C	XP_006715749.1:p.Asp148His
XM_006715686.2:c.442G>C	XP_006715749.1:p.Asp148His
NM_002047.4:c.811G>C MANE Select	NP_002038.2:p.Asp271His