Canonical Allele Identifier: CA9231764

Gene: RNASEH2A THSD8 HOOK2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12807059T>C , CM000681.2:g.12807059T>C	GRCh38
NC_000019.9:g.12917873T>C , CM000681.1:g.12917873T>C	GRCh37
NC_000019.8:g.12778873T>C	NCBI36
NG_012662.1:g.5446T>C , LRG_278:g.5446T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006397.3:c.179T>C (RNASEH2A) MANE Select	NP_006388.2:p.Leu60Pro
ENST00000221486.6:c.179T>C (RNASEH2A) MANE Select	ENSP00000221486.4:p.Leu60Pro
NM_006397.2:c.179T>C , LRG_278t1:c.179T>C (RNASEH2A)	NP_006388.2:p.Leu60Pro
ENST00000221486.4:c.179T>C (RNASEH2A)	ENSP00000221486.3:p.Leu60Pro
ENST00000589765.1:n.41+18119A>G (HOOK2)
ENST00000590121.1:n.176T>C (RNASEH2A)
ENST00000590121.2:c.176T>C (RNASEH2A)	ENSP00000495087.1:p.Leu59Pro
ENST00000590279.1:n.376T>C (RNASEH2A)
ENST00000590279.2:n.468T>C (RNASEH2A)
ENST00000593017.1:n.468T>C (RNASEH2A)
ENST00000593017.2:n.376T>C (RNASEH2A)
ENST00000639767.2:c.*58T>C (THSD8)	ENSP00000491410.2:n.*58T>C
ENST00000643757.1:n.214T>C (RNASEH2A)
ENST00000646769.1:c.179T>C (RNASEH2A)	ENSP00000495175.1:p.Leu60Pro
XM_006722619.2:c.47T>C (RNASEH2A)	XP_006722682.1:p.Leu16Pro