Canonical Allele Identifier: CA381297442

Gene: RNASEH2C

Linked Data

• ClinVar Variation Id: 1392250
• ClinVar RCV Id: RCV001896124
• dbSNP Id: rs2135652251
• MyVariant Identifiers: chr11:g.65487544G>A (hg19) ; chr11:g.65720073G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65720073G>A , CM000673.2:g.65720073G>A	GRCh38
NC_000011.9:g.65487544G>A , CM000673.1:g.65487544G>A	GRCh37
NC_000011.8:g.65244120G>A	NCBI36
NG_008976.2:g.5866C>T , LRG_280:g.5866C>T
NG_033057.1:g.13072G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308418.10:c.440C>T MANE Select	ENSP00000308193.5:p.Ala147Val
ENST00000528220.2:n.669C>T
ENST00000531596.6:c.440C>T	ENSP00000435717.2:p.Ala147Val
ENST00000534482.6:c.440C>T	ENSP00000432081.2:p.Ala147Val
ENST00000642430.1:n.333C>T
ENST00000643214.1:n.514C>T
ENST00000644142.1:c.440C>T	ENSP00000493695.1:p.Ala147Val
ENST00000644198.1:n.337C>T
ENST00000646597.1:n.377C>T
ENST00000308418.8:c.440C>T	ENSP00000308193.4:p.Ala147Val
ENST00000527610.1:c.440C>T	ENSP00000432897.1:p.Ala147Val
ENST00000528220.1:c.191C>T	ENSP00000431555.1:p.Ala64Val
ENST00000530192.1:n.557C>T
ENST00000531596.5:c.421C>T
ENST00000533698.5:c.319C>T
ENST00000534482.5:c.334C>T
NM_032193.3:c.440C>T , LRG_280t1:c.440C>T	NP_115569.2:p.Ala147Val
NM_032193.4:c.440C>T MANE Select	NP_115569.2:p.Ala147Val