Canonical Allele Identifier: CA404263608

Gene: RNASEH2A THSD8 HOOK2

Linked Data

• gnomAD v4: 19-12806791-C-A
• MyVariant Identifiers: chr19:g.12917605C>A (hg19) ; chr19:g.12806791C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12806791C>A , CM000681.2:g.12806791C>A	GRCh38
NC_000019.9:g.12917605C>A , CM000681.1:g.12917605C>A	GRCh37
NC_000019.8:g.12778605C>A	NCBI36
NG_012662.1:g.5178C>A , LRG_278:g.5178C>A
NG_029901.1:g.90G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221486.6:c.118C>A (RNASEH2A) MANE Select	ENSP00000221486.4:p.Pro40Thr
ENST00000590121.2:c.115C>A (RNASEH2A)	ENSP00000495087.1:p.Pro39Thr
ENST00000590279.2:n.200C>A (RNASEH2A)
ENST00000593017.2:n.108C>A (RNASEH2A)
ENST00000639767.2:c.*7-217C>A (THSD8)	ENSP00000491410.2:n.*7-217C>A
ENST00000646769.1:c.118C>A (RNASEH2A)	ENSP00000495175.1:p.Pro40Thr
ENST00000221486.4:c.118C>A (RNASEH2A)	ENSP00000221486.3:p.Pro40Thr
ENST00000589765.1:n.41+18387G>T (HOOK2)
ENST00000590121.1:n.115C>A (RNASEH2A)
ENST00000590279.1:n.108C>A (RNASEH2A)
ENST00000593017.1:n.200C>A (RNASEH2A)
NM_006397.2:c.118C>A , LRG_278t1:c.118C>A (RNASEH2A)	NP_006388.2:p.Pro40Thr
XM_006722619.2:c.-5-217C>A (RNASEH2A)	XP_006722682.1:n.-5-217C>A
NM_006397.3:c.118C>A (RNASEH2A) MANE Select	NP_006388.2:p.Pro40Thr