Canonical Allele Identifier: CA10605710

Gene: RNASEH2C

Linked Data

• ClinVar Variation Id: 287241
• ClinVar RCV Id: RCV000385498 ; RCV002487247
• dbSNP Id: rs771823743
• gnomAD v4: 11-65719787-T-A
• MyVariant Identifiers: chr11:g.65487258T>A (hg19) ; chr11:g.65719787T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65719787T>A , CM000673.2:g.65719787T>A	GRCh38
NC_000011.9:g.65487258T>A , CM000673.1:g.65487258T>A	GRCh37
NC_000011.8:g.65243834T>A	NCBI36
NG_008976.2:g.6152A>T , LRG_280:g.6152A>T
NG_033057.1:g.12786T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308418.10:c.491A>T MANE Select	ENSP00000308193.5:p.Asp164Val
ENST00000528220.2:n.720A>T
ENST00000531596.6:c.491A>T	ENSP00000435717.2:p.Asp164Val
ENST00000534482.6:c.491A>T	ENSP00000432081.2:p.Asp164Val
ENST00000642430.1:n.384A>T
ENST00000643214.1:n.565A>T
ENST00000644142.1:c.491A>T	ENSP00000493695.1:p.Asp164Val
ENST00000644198.1:n.388A>T
ENST00000646597.1:n.428A>T
ENST00000308418.8:c.491A>T	ENSP00000308193.4:p.Asp164Val
ENST00000527610.1:c.726A>T	ENSP00000432897.1:p.Gly242=
ENST00000528220.1:c.242A>T	ENSP00000431555.1:p.Asp81Val
ENST00000531596.5:c.472A>T
ENST00000533698.5:c.370A>T
ENST00000534482.5:c.385A>T
NM_032193.3:c.491A>T , LRG_280t1:c.491A>T	NP_115569.2:p.Asp164Val
NM_032193.4:c.491A>T MANE Select	NP_115569.2:p.Asp164Val