Canonical Allele Identifier: CA9231704
Community Standard Title: NM_006397.3(RNASEH2A):c.1A>G (p.Met1Val)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12806674A>G , CM000681.2:g.12806674A>G GRCh38
NC_000019.9:g.12917488A>G , CM000681.1:g.12917488A>G GRCh37
NC_000019.8:g.12778488A>G NCBI36
NG_012662.1:g.5061A>G , LRG_278:g.5061A>G
NG_029901.1:g.207T>C

Transcript Alleles

HGVS Amino-acid Change
NM_006397.3:c.1A>G (RNASEH2A) MANE Select NP_006388.2:p.Met1Val
ENST00000221486.6:c.1A>G (RNASEH2A) MANE Select ENSP00000221486.4:p.Met1Val
NM_006397.2:c.1A>G , LRG_278t1:c.1A>G (RNASEH2A) NP_006388.2:p.Met1Val
ENST00000221486.4:c.1A>G (RNASEH2A) ENSP00000221486.3:p.Met1Val
ENST00000589765.1:n.41+18504T>C (HOOK2)
ENST00000590279.2:n.83A>G (RNASEH2A)
ENST00000593017.1:n.83A>G (RNASEH2A)
ENST00000639767.2:c.*7-334A>G (THSD8) ENSP00000491410.2:n.*7-334A>G
ENST00000643364.1:n.685A>G (THSD8)
ENST00000646769.1:c.1A>G (RNASEH2A) ENSP00000495175.1:p.Met1Val
XM_006722619.2:c.-5-334A>G (RNASEH2A) XP_006722682.1:n.-5-334A>G