Canonical Allele Identifier: CA1889435

Gene: DARS1

Linked Data

• ClinVar Variation Id: 1031971
• ClinVar RCV Id: RCV001333928 ; RCV004035771
• dbSNP Id: rs773488177
• ExAC: 2:136664899 C / T
• gnomAD v2: 2-136664899-C-T
• gnomAD v3: 2-135907329-C-T
• gnomAD v4: 2-135907329-C-T
• MyVariant Identifiers: chr2:g.136664899C>T (hg19) ; chr2:g.135907329C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135907329C>T , CM000664.2:g.135907329C>T	GRCh38
NC_000002.11:g.136664899C>T , CM000664.1:g.136664899C>T	GRCh37
NC_000002.10:g.136381369C>T	NCBI36
NG_034149.1:g.83356G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264161.9:c.1493G>A MANE Select	ENSP00000264161.4:p.Arg498Gln
ENST00000264161.8:c.1493G>A	ENSP00000264161.4:p.Arg498Gln
ENST00000422708.3:c.554G>A	ENSP00000387508.1:p.Arg185Gln
ENST00000478212.5:n.387G>A
ENST00000489964.5:n.742G>A
NM_001293312.1:c.1193G>A	NP_001280241.1:p.Arg398Gln
NM_001349.3:c.1493G>A	NP_001340.2:p.Arg498Gln
NM_001349.4:c.1493G>A MANE Select	NP_001340.2:p.Arg498Gln