Canonical Allele Identifier: CA348606632
Gene: DARS1 HGNC NCBI

Linked Data

gnomAD v4: 2-135907318-A-G
MyVariant Identifiers: chr2:g.136664888A>G (hg19) chr2:g.135907318A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135907318A>G , CM000664.2:g.135907318A>G GRCh38
NC_000002.11:g.136664888A>G , CM000664.1:g.136664888A>G GRCh37
NC_000002.10:g.136381358A>G NCBI36
NG_034149.1:g.83367T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264161.9:c.1504T>C MANE Select ENSP00000264161.4:p.Ter502Gln
ENST00000264161.8:c.1504T>C ENSP00000264161.4:p.Ter502Gln
ENST00000422708.3:c.565T>C ENSP00000387508.1:p.Ter189Gln
ENST00000478212.5:n.398T>C
ENST00000489964.5:n.753T>C
NM_001293312.1:c.1204T>C NP_001280241.1:p.Ter402Gln
NM_001349.3:c.1504T>C NP_001340.2:p.Ter502Gln
NM_001349.4:c.1504T>C MANE Select NP_001340.2:p.Ter502Gln
Search 100 bp 5'
Search 100 bp 3'