Canonical Allele Identifier: CA381298223

Gene: RNASEH2C

Linked Data

• ClinVar Variation Id: 2090252
• ClinVar RCV Id: RCV003020818
• gnomAD v4: 11-65720149-C-T
• MyVariant Identifiers: chr11:g.65487620C>T (hg19) ; chr11:g.65720149C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65720149C>T , CM000673.2:g.65720149C>T	GRCh38
NC_000011.9:g.65487620C>T , CM000673.1:g.65487620C>T	GRCh37
NC_000011.8:g.65244196C>T	NCBI36
NG_008976.2:g.5790G>A , LRG_280:g.5790G>A
NG_033057.1:g.13148C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308418.10:c.364G>A MANE Select	ENSP00000308193.5:p.Ala122Thr
ENST00000528220.2:n.593G>A
ENST00000531596.6:c.364G>A	ENSP00000435717.2:p.Ala122Thr
ENST00000534482.6:c.364G>A	ENSP00000432081.2:p.Ala122Thr
ENST00000642430.1:n.257G>A
ENST00000643214.1:n.438G>A
ENST00000644142.1:c.364G>A	ENSP00000493695.1:p.Ala122Thr
ENST00000644198.1:n.261G>A
ENST00000646597.1:n.301G>A
ENST00000308418.8:c.364G>A	ENSP00000308193.4:p.Ala122Thr
ENST00000527610.1:c.364G>A	ENSP00000432897.1:p.Ala122Thr
ENST00000528220.1:c.115G>A	ENSP00000431555.1:p.Ala39Thr
ENST00000530192.1:n.481G>A
ENST00000531596.5:c.345G>A
ENST00000533698.5:c.243G>A
ENST00000534482.5:c.258G>A
NM_032193.3:c.364G>A , LRG_280t1:c.364G>A	NP_115569.2:p.Ala122Thr
NM_032193.4:c.364G>A MANE Select	NP_115569.2:p.Ala122Thr