Canonical Allele Identifier: CA9231774
Community Standard Title: NM_006397.3(RNASEH2A):c.199+8C>G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12807087C>G , CM000681.2:g.12807087C>G GRCh38
NC_000019.9:g.12917901C>G , CM000681.1:g.12917901C>G GRCh37
NC_000019.8:g.12778901C>G NCBI36
NG_012662.1:g.5474C>G , LRG_278:g.5474C>G

Transcript Alleles

HGVS Amino-acid Change
NM_006397.3:c.199+8C>G (RNASEH2A) MANE Select NP_006388.2:n.199+8C>G
ENST00000221486.6:c.199+8C>G (RNASEH2A) MANE Select ENSP00000221486.4:n.199+8C>G
NM_006397.2:c.199+8C>G , LRG_278t1:c.199+8C>G (RNASEH2A) NP_006388.2:n.199+8C>G
ENST00000221486.4:c.199+8C>G (RNASEH2A) ENSP00000221486.3:n.199+8C>G
ENST00000589765.1:n.41+18091G>C (HOOK2)
ENST00000590121.1:n.196+8C>G (RNASEH2A)
ENST00000590121.2:c.196+8C>G (RNASEH2A) ENSP00000495087.1:n.196+8C>G
ENST00000590279.1:n.396+8C>G (RNASEH2A)
ENST00000590279.2:n.496C>G (RNASEH2A)
ENST00000593017.1:n.496C>G (RNASEH2A)
ENST00000593017.2:n.396+8C>G (RNASEH2A)
ENST00000639767.2:c.*78+8C>G (THSD8) ENSP00000491410.2:n.*78+8C>G
ENST00000643757.1:n.234+8C>G (RNASEH2A)
ENST00000646769.1:c.199+8C>G (RNASEH2A) ENSP00000495175.1:n.199+8C>G
XM_006722619.2:c.67+8C>G (RNASEH2A) XP_006722682.1:n.67+8C>G