Canonical Allele Identifier: CA9231871
Community Standard Title: NM_006397.3(RNASEH2A):c.402C>T (p.Asn134=)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12807497C>T , CM000681.2:g.12807497C>T GRCh38
NC_000019.9:g.12918311C>T , CM000681.1:g.12918311C>T GRCh37
NC_000019.8:g.12779311C>T NCBI36
NG_012662.1:g.5884C>T , LRG_278:g.5884C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006397.3:c.402C>T (RNASEH2A) MANE Select NP_006388.2:p.Asn134=
ENST00000221486.6:c.402C>T (RNASEH2A) MANE Select ENSP00000221486.4:p.Asn134=
NM_006397.2:c.402C>T , LRG_278t1:c.402C>T (RNASEH2A) NP_006388.2:p.Asn134=
ENST00000221486.4:c.402C>T (RNASEH2A) ENSP00000221486.3:p.Asn134=
ENST00000589765.1:n.41+17681G>A (HOOK2)
ENST00000590121.1:n.399C>T (RNASEH2A)
ENST00000590121.2:c.399C>T (RNASEH2A) ENSP00000495087.1:p.Asn133=
ENST00000590279.1:n.688C>T (RNASEH2A)
ENST00000590279.2:n.817C>T (RNASEH2A)
ENST00000593017.1:n.817C>T (RNASEH2A)
ENST00000593017.2:n.688C>T (RNASEH2A)
ENST00000639767.2:c.*281C>T (THSD8) ENSP00000491410.2:n.*281C>T
ENST00000643757.1:n.437C>T (RNASEH2A)
ENST00000646769.1:c.*62C>T (RNASEH2A) ENSP00000495175.1:n.*62C>T
XM_006722619.2:c.270C>T (RNASEH2A) XP_006722682.1:p.Asn90=