Canonical Allele Identifier: CA348606660
Gene: DARS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.136664896A>C (hg19) chr2:g.135907326A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135907326A>C , CM000664.2:g.135907326A>C GRCh38
NC_000002.11:g.136664896A>C , CM000664.1:g.136664896A>C GRCh37
NC_000002.10:g.136381366A>C NCBI36
NG_034149.1:g.83359T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264161.9:c.1496T>G MANE Select ENSP00000264161.4:p.Leu499Arg
ENST00000264161.8:c.1496T>G ENSP00000264161.4:p.Leu499Arg
ENST00000422708.3:c.557T>G ENSP00000387508.1:p.Leu186Arg
ENST00000478212.5:n.390T>G
ENST00000489964.5:n.745T>G
NM_001293312.1:c.1196T>G NP_001280241.1:p.Leu399Arg
NM_001349.3:c.1496T>G NP_001340.2:p.Leu499Arg
NM_001349.4:c.1496T>G MANE Select NP_001340.2:p.Leu499Arg
Search 100 bp 5'
Search 100 bp 3'