Canonical Allele Identifier: CA381297648

Gene: RNASEH2C

Linked Data

• ClinVar Variation Id: 2061031
• ClinVar RCV Id: RCV002942414
• MyVariant Identifiers: chr11:g.65487565G>T (hg19) ; chr11:g.65720094G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65720094G>T , CM000673.2:g.65720094G>T	GRCh38
NC_000011.9:g.65487565G>T , CM000673.1:g.65487565G>T	GRCh37
NC_000011.8:g.65244141G>T	NCBI36
NG_008976.2:g.5845C>A , LRG_280:g.5845C>A
NG_033057.1:g.13093G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308418.10:c.419C>A MANE Select	ENSP00000308193.5:p.Pro140Gln
ENST00000528220.2:n.648C>A
ENST00000531596.6:c.419C>A	ENSP00000435717.2:p.Pro140Gln
ENST00000534482.6:c.419C>A	ENSP00000432081.2:p.Pro140Gln
ENST00000642430.1:n.312C>A
ENST00000643214.1:n.493C>A
ENST00000644142.1:c.419C>A	ENSP00000493695.1:p.Pro140Gln
ENST00000644198.1:n.316C>A
ENST00000646597.1:n.356C>A
ENST00000308418.8:c.419C>A	ENSP00000308193.4:p.Pro140Gln
ENST00000527610.1:c.419C>A	ENSP00000432897.1:p.Pro140Gln
ENST00000528220.1:c.170C>A	ENSP00000431555.1:p.Pro57Gln
ENST00000530192.1:n.536C>A
ENST00000531596.5:c.400C>A
ENST00000533698.5:c.298C>A
ENST00000534482.5:c.313C>A
NM_032193.3:c.419C>A , LRG_280t1:c.419C>A	NP_115569.2:p.Pro140Gln
NM_032193.4:c.419C>A MANE Select	NP_115569.2:p.Pro140Gln