Canonical Allele Identifier: CA343767605

Gene: DARS2

Linked Data

• gnomAD v4: 1-173857544-A-T
• MyVariant Identifiers: chr1:g.173826682A>T (hg19) ; chr1:g.173857544A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857544A>T , CM000663.2:g.173857544A>T	GRCh38
NC_000001.10:g.173826682A>T , CM000663.1:g.173826682A>T	GRCh37
NC_000001.9:g.172093305A>T	NCBI36
NG_016138.1:g.37886A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*1356A>T	ENSP00000497663.1:n.*1356A>T
ENST00000647645.1:c.1714A>T	ENSP00000497450.1:p.Thr572Ser
ENST00000647730.1:c.*1467A>T	ENSP00000497781.1:n.*1467A>T
ENST00000647788.1:c.*921A>T	ENSP00000497769.1:n.*921A>T
ENST00000648271.1:c.*2243A>T	ENSP00000497795.1:n.*2243A>T
ENST00000648807.1:c.1624A>T	ENSP00000497472.1:p.Thr542Ser
ENST00000648960.1:c.1294A>T	ENSP00000497091.1:p.Thr432Ser
ENST00000649067.1:c.*780A>T	ENSP00000497052.1:n.*780A>T
ENST00000649689.2:c.1777A>T MANE Select	ENSP00000497569.1:p.Thr593Ser
ENST00000361951.4:c.1777A>T	ENSP00000355086.4:p.Thr593Ser
ENST00000471476.1:n.599A>T
NM_018122.4:c.1777A>T	NP_060592.2:p.Thr593Ser
XM_006711427.2:c.1624A>T	XP_006711490.1:p.Thr542Ser
NM_001365212.1:c.1624A>T	NP_001352141.1:p.Thr542Ser
NM_018122.5:c.1777A>T MANE Select	NP_060592.2:p.Thr593Ser