Canonical Allele Identifier: CA32784571

Gene: DARS2

Linked Data

• dbSNP Id: rs550545818
• gnomAD v3: 1-173857600-T-A
• gnomAD v4: 1-173857600-T-A
• MyVariant Identifiers: chr1:g.173826738T>A (hg19) ; chr1:g.173857600T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857600T>A , CM000663.2:g.173857600T>A	GRCh38
NC_000001.10:g.173826738T>A , CM000663.1:g.173826738T>A	GRCh37
NC_000001.9:g.172093361T>A	NCBI36
NG_016138.1:g.37942T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*1412T>A	ENSP00000497663.1:n.*1412T>A
ENST00000647645.1:c.1770T>A	ENSP00000497450.1:p.His590Gln
ENST00000647730.1:c.*1523T>A	ENSP00000497781.1:n.*1523T>A
ENST00000647788.1:c.*977T>A	ENSP00000497769.1:n.*977T>A
ENST00000648271.1:c.*2299T>A	ENSP00000497795.1:n.*2299T>A
ENST00000648807.1:c.1680T>A	ENSP00000497472.1:p.His560Gln
ENST00000648960.1:c.1350T>A	ENSP00000497091.1:p.His450Gln
ENST00000649067.1:c.*836T>A	ENSP00000497052.1:n.*836T>A
ENST00000649689.2:c.1833T>A MANE Select	ENSP00000497569.1:p.His611Gln
ENST00000361951.4:c.1833T>A	ENSP00000355086.4:p.His611Gln
ENST00000471476.1:n.655T>A
NM_018122.4:c.1833T>A	NP_060592.2:p.His611Gln
XM_006711427.2:c.1680T>A	XP_006711490.1:p.His560Gln
NM_001365212.1:c.1680T>A	NP_001352141.1:p.His560Gln
NM_018122.5:c.1833T>A MANE Select	NP_060592.2:p.His611Gln