Canonical Allele Identifier: CA305492095
Community Standard Title: NM_006397.3(RNASEH2A):c.13G>T (p.Glu5Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12806686G>T , CM000681.2:g.12806686G>T GRCh38
NC_000019.9:g.12917500G>T , CM000681.1:g.12917500G>T GRCh37
NC_000019.8:g.12778500G>T NCBI36
NG_012662.1:g.5073G>T , LRG_278:g.5073G>T
NG_029901.1:g.195C>A

Transcript Alleles

HGVS Amino-acid Change
NM_006397.3:c.13G>T (RNASEH2A) MANE Select NP_006388.2:p.Glu5Ter
ENST00000221486.6:c.13G>T (RNASEH2A) MANE Select ENSP00000221486.4:p.Glu5Ter
NM_006397.2:c.13G>T , LRG_278t1:c.13G>T (RNASEH2A) NP_006388.2:p.Glu5Ter
ENST00000221486.4:c.13G>T (RNASEH2A) ENSP00000221486.3:p.Glu5Ter
ENST00000589765.1:n.41+18492C>A (HOOK2)
ENST00000590121.1:n.10G>T (RNASEH2A)
ENST00000590121.2:c.10G>T (RNASEH2A) ENSP00000495087.1:p.Glu4Ter
ENST00000590279.1:n.3G>T (RNASEH2A)
ENST00000590279.2:n.95G>T (RNASEH2A)
ENST00000593017.1:n.95G>T (RNASEH2A)
ENST00000593017.2:n.3G>T (RNASEH2A)
ENST00000639767.2:c.*7-322G>T (THSD8) ENSP00000491410.2:n.*7-322G>T
ENST00000643364.1:n.697G>T (THSD8)
ENST00000646769.1:c.13G>T (RNASEH2A) ENSP00000495175.1:p.Glu5Ter
XM_006722619.2:c.-5-322G>T (RNASEH2A) XP_006722682.1:n.-5-322G>T