Canonical Allele Identifier: CA2323580651

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12806787G= , CM000681.2:g.12806787G= GRCh38
NC_000019.9:g.12917601G= , CM000681.1:g.12917601G= GRCh37
NC_000019.8:g.12778601G= NCBI36
NG_012662.1:g.5174G= , LRG_278:g.5174G=
NG_029901.1:g.94C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000221486.6:c.114G= (RNASEH2A) MANE Select ENSP00000221486.4:p.Arg38=
ENST00000590121.2:c.111G= (RNASEH2A) ENSP00000495087.1:p.Arg37=
ENST00000590279.2:n.196G= (RNASEH2A)
ENST00000593017.2:n.104G= (RNASEH2A)
ENST00000639767.2:c.*7-221G= (THSD8) ENSP00000491410.2:n.*7-221G=
ENST00000643364.1:n.798G= (THSD8)
ENST00000646769.1:c.114G= (RNASEH2A) ENSP00000495175.1:p.Arg38=
ENST00000221486.4:c.114G= (RNASEH2A) ENSP00000221486.3:p.Arg38=
ENST00000589765.1:n.41+18391C= (HOOK2)
ENST00000590121.1:n.111G= (RNASEH2A)
ENST00000590279.1:n.104G= (RNASEH2A)
ENST00000593017.1:n.196G= (RNASEH2A)
NM_006397.2:c.114G= , LRG_278t1:c.114G= (RNASEH2A) NP_006388.2:p.Arg38=
XM_006722619.2:c.-5-221G= (RNASEH2A) XP_006722682.1:n.-5-221G=
NM_006397.3:c.114G= (RNASEH2A) MANE Select NP_006388.2:p.Arg38=