Canonical Allele Identifier: CA404263558

Gene: RNASEH2A THSD8 HOOK2

Linked Data

• gnomAD v4: 19-12806785-A-T
• MyVariant Identifiers: chr19:g.12917599A>T (hg19) ; chr19:g.12806785A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12806785A>T , CM000681.2:g.12806785A>T	GRCh38
NC_000019.9:g.12917599A>T , CM000681.1:g.12917599A>T	GRCh37
NC_000019.8:g.12778599A>T	NCBI36
NG_012662.1:g.5172A>T , LRG_278:g.5172A>T
NG_029901.1:g.96T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221486.6:c.112A>T (RNASEH2A) MANE Select	ENSP00000221486.4:p.Arg38Trp
ENST00000590121.2:c.109A>T (RNASEH2A)	ENSP00000495087.1:p.Arg37Trp
ENST00000590279.2:n.194A>T (RNASEH2A)
ENST00000593017.2:n.102A>T (RNASEH2A)
ENST00000639767.2:c.*7-223A>T (THSD8)	ENSP00000491410.2:n.*7-223A>T
ENST00000643364.1:n.796A>T (THSD8)
ENST00000646769.1:c.112A>T (RNASEH2A)	ENSP00000495175.1:p.Arg38Trp
ENST00000221486.4:c.112A>T (RNASEH2A)	ENSP00000221486.3:p.Arg38Trp
ENST00000589765.1:n.41+18393T>A (HOOK2)
ENST00000590121.1:n.109A>T (RNASEH2A)
ENST00000590279.1:n.102A>T (RNASEH2A)
ENST00000593017.1:n.194A>T (RNASEH2A)
NM_006397.2:c.112A>T , LRG_278t1:c.112A>T (RNASEH2A)	NP_006388.2:p.Arg38Trp
XM_006722619.2:c.-5-223A>T (RNASEH2A)	XP_006722682.1:n.-5-223A>T
NM_006397.3:c.112A>T (RNASEH2A) MANE Select	NP_006388.2:p.Arg38Trp