Canonical Allele Identifier: CA4205821

Gene: GARS1

Linked Data

• ClinVar Variation Id: 360007
• ClinVar RCV Id: RCV000269576 ; RCV000365389 ; RCV000326925 ; RCV002229908 ; RCV001810861
• dbSNP Id: rs201399681
• ExAC: 7:30649231 G / C
• gnomAD v2: 7-30649231-G-C
• gnomAD v3: 7-30609615-G-C
• gnomAD v4: 7-30609615-G-C
• COSMIC: COSM4004447
• MyVariant Identifiers: chr7:g.30649231G>C (hg19) ; chr7:g.30609615G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609615G>C , CM000669.2:g.30609615G>C	GRCh38
NC_000007.13:g.30649231G>C , CM000669.1:g.30649231G>C	GRCh37
NC_000007.12:g.30615756G>C	NCBI36
NG_007942.1:g.20051G>C , LRG_243:g.20051G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.766G>C MANE Select	ENSP00000373918.3:p.Asp256His
ENST00000444666.6:c.766G>C	ENSP00000415447.2:p.Asp256His
ENST00000470392.2:n.856G>C
ENST00000478124.6:n.829G>C
ENST00000485784.2:n.845G>C
ENST00000674616.1:c.*480G>C	ENSP00000502408.1:n.*480G>C
ENST00000674643.1:c.766G>C	ENSP00000501636.1:p.Asp256His
ENST00000674734.1:n.1262G>C
ENST00000674737.1:c.*104G>C	ENSP00000502464.1:n.*104G>C
ENST00000674807.1:c.766G>C	ENSP00000502814.1:p.Asp256His
ENST00000674815.1:c.397G>C	ENSP00000502799.1:p.Asp133His
ENST00000674851.1:c.397G>C	ENSP00000502451.1:p.Asp133His
ENST00000674969.1:n.2639G>C
ENST00000675051.1:c.565G>C	ENSP00000502296.1:p.Asp189His
ENST00000675529.1:c.*636G>C	ENSP00000501655.1:n.*636G>C
ENST00000675587.1:n.782G>C
ENST00000675651.1:c.766G>C	ENSP00000502513.1:p.Asp256His
ENST00000675693.1:c.598G>C	ENSP00000502174.1:p.Asp200His
ENST00000675810.1:c.664G>C	ENSP00000502743.1:p.Asp222His
ENST00000675859.1:c.766G>C	ENSP00000502033.1:p.Asp256His
ENST00000675863.1:n.774G>C
ENST00000675886.1:n.6806G>C
ENST00000676088.1:c.*708G>C	ENSP00000501884.1:n.*708G>C
ENST00000676140.1:c.766G>C	ENSP00000502571.1:p.Asp256His
ENST00000676164.1:c.*217G>C	ENSP00000501986.1:n.*217G>C
ENST00000676210.1:c.*55G>C	ENSP00000502373.1:n.*55G>C
ENST00000676259.1:c.*198G>C	ENSP00000501980.1:n.*198G>C
ENST00000676403.1:c.766G>C	ENSP00000502681.1:p.Asp256His
ENST00000389266.7:c.766G>C	ENSP00000373918.3:p.Asp256His
ENST00000478124.5:n.804G>C
NM_001316772.1:c.604G>C	NP_001303701.1:p.Asp202His
NM_002047.2:c.766G>C , LRG_243t1:c.766G>C	NP_002038.2:p.Asp256His
NM_002047.3:c.766G>C	NP_002038.2:p.Asp256His
XM_006715686.1:c.397G>C	XP_006715749.1:p.Asp133His
XM_006715686.2:c.397G>C	XP_006715749.1:p.Asp133His
NM_002047.4:c.766G>C MANE Select	NP_002038.2:p.Asp256His