Canonical Allele Identifier: CA536403472
Gene: DARS1 HGNC NCBI

Linked Data

dbSNP Id: rs1390524737
gnomAD v2: 2-136664851-T-C
gnomAD v4: 2-135907281-T-C
MyVariant Identifiers: chr2:g.136664851T>C (hg19) chr2:g.135907281T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135907281T>C , CM000664.2:g.135907281T>C GRCh38
NC_000002.11:g.136664851T>C , CM000664.1:g.136664851T>C GRCh37
NC_000002.10:g.136381321T>C NCBI36
NG_034149.1:g.83404A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264161.9:c.*35A>G MANE Select ENSP00000264161.4:n.*35A>G
ENST00000264161.8:c.*35A>G ENSP00000264161.4:n.*35A>G
ENST00000422708.3:c.602A>G ENSP00000387508.1:n.602A>G
ENST00000478212.5:n.435A>G
ENST00000489964.5:n.790A>G
NM_001293312.1:c.*35A>G NP_001280241.1:n.*35A>G
NM_001349.3:c.*35A>G NP_001340.2:n.*35A>G
NM_001349.4:c.*35A>G MANE Select NP_001340.2:n.*35A>G
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