Canonical Allele Identifier: CA454246809

Gene: GARS1

Linked Data

• gnomAD v4: 7-30609662-T-C
• MyVariant Identifiers: chr7:g.30649278T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609662T>C , CM000669.2:g.30609662T>C	GRCh38
NC_000007.13:g.30649278T>C , CM000669.1:g.30649278T>C	GRCh37
NC_000007.12:g.30615803T>C	NCBI36
NG_007942.1:g.20098T>C , LRG_243:g.20098T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.813T>C MANE Select	ENSP00000373918.3:p.Asp271=
ENST00000444666.6:c.813T>C	ENSP00000415447.2:p.Asp271=
ENST00000470392.2:n.903T>C
ENST00000478124.6:n.876T>C
ENST00000485784.2:n.892T>C
ENST00000674616.1:c.*527T>C	ENSP00000502408.1:n.*527T>C
ENST00000674643.1:c.813T>C	ENSP00000501636.1:p.Asp271=
ENST00000674734.1:n.1309T>C
ENST00000674737.1:c.*151T>C	ENSP00000502464.1:n.*151T>C
ENST00000674807.1:c.813T>C	ENSP00000502814.1:p.Asp271=
ENST00000674815.1:c.444T>C	ENSP00000502799.1:p.Asp148=
ENST00000674851.1:c.444T>C	ENSP00000502451.1:p.Asp148=
ENST00000674969.1:n.2686T>C
ENST00000675051.1:c.612T>C	ENSP00000502296.1:p.Asp204=
ENST00000675529.1:c.*683T>C	ENSP00000501655.1:n.*683T>C
ENST00000675587.1:n.829T>C
ENST00000675651.1:c.813T>C	ENSP00000502513.1:p.Asp271=
ENST00000675693.1:c.645T>C	ENSP00000502174.1:p.Asp215=
ENST00000675810.1:c.711T>C	ENSP00000502743.1:p.Asp237=
ENST00000675859.1:c.813T>C	ENSP00000502033.1:p.Asp271=
ENST00000675863.1:n.821T>C
ENST00000675886.1:n.6853T>C
ENST00000676088.1:c.*755T>C	ENSP00000501884.1:n.*755T>C
ENST00000676140.1:c.813T>C	ENSP00000502571.1:p.Asp271=
ENST00000676164.1:c.*264T>C	ENSP00000501986.1:n.*264T>C
ENST00000676210.1:c.*102T>C	ENSP00000502373.1:n.*102T>C
ENST00000676259.1:c.*245T>C	ENSP00000501980.1:n.*245T>C
ENST00000676403.1:c.813T>C	ENSP00000502681.1:p.Asp271=
ENST00000389266.7:c.813T>C	ENSP00000373918.3:p.Asp271=
ENST00000478124.5:n.851T>C
NM_001316772.1:c.651T>C	NP_001303701.1:p.Asp217=
NM_002047.2:c.813T>C , LRG_243t1:c.813T>C	NP_002038.2:p.Asp271=
NM_002047.3:c.813T>C	NP_002038.2:p.Asp271=
XM_006715686.1:c.444T>C	XP_006715749.1:p.Asp148=
XM_006715686.2:c.444T>C	XP_006715749.1:p.Asp148=
NM_002047.4:c.813T>C MANE Select	NP_002038.2:p.Asp271=