Canonical Allele Identifier: CA10635267

Gene: RNASEH2C KAT5

Linked Data

• ClinVar Variation Id: 305322
• ClinVar RCV Id: RCV000321747
• dbSNP Id: rs3372
• gnomAD v2: 11-65485218-G-A
• gnomAD v3: 11-65717747-G-A
• gnomAD v4: 11-65717747-G-A
• MyVariant Identifiers: chr11:g.65485218G>A (hg19) ; chr11:g.65717747G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65717747G>A , CM000673.2:g.65717747G>A	GRCh38
NC_000011.9:g.65485218G>A , CM000673.1:g.65485218G>A	GRCh37
NC_000011.8:g.65241794G>A	NCBI36
NG_008976.2:g.8192C>T , LRG_280:g.8192C>T
NG_033057.1:g.10746G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308418.10:c.*2036C>T (RNASEH2C) MANE Select	ENSP00000308193.5:n.*2036C>T
ENST00000341318.9:c.1264+765G>A (KAT5) MANE Select	ENSP00000340330.4:n.1264+765G>A
ENST00000528220.2:n.2760C>T (RNASEH2C)
ENST00000531596.6:c.*1512C>T (RNASEH2C)	ENSP00000435717.2:n.*1512C>T
ENST00000534482.6:c.*2036C>T (RNASEH2C)	ENSP00000432081.2:n.*2036C>T
ENST00000642430.1:n.1900C>T (RNASEH2C)
ENST00000643214.1:n.2605C>T (RNASEH2C)
ENST00000644142.1:c.*1178C>T (RNASEH2C)	ENSP00000493695.1:n.*1178C>T
ENST00000644198.1:n.494+1934C>T (RNASEH2C)
ENST00000645835.1:n.723C>T (RNASEH2C)
ENST00000646597.1:n.681C>T (RNASEH2C)
ENST00000308418.8:c.*2036C>T (RNASEH2C)	ENSP00000308193.4:n.*2036C>T
ENST00000341318.8:c.1264+765G>A (KAT5)	ENSP00000340330.4:n.1264+765G>A
ENST00000352980.8:c.1009+765G>A (KAT5)	ENSP00000344955.4:n.1009+765G>A
ENST00000377046.7:c.1165+765G>A (KAT5)	ENSP00000366245.3:n.1165+765G>A
ENST00000530446.5:c.1108+765G>A (KAT5)	ENSP00000434765.1:n.1108+765G>A
ENST00000534482.5:c.491+1934C>T (RNASEH2C)
ENST00000534650.5:c.532+765G>A (KAT5)	ENSP00000431819.1:n.532+765G>A
NM_001206833.1:c.1108+765G>A (KAT5)	NP_001193762.1:n.1108+765G>A
NM_006388.3:c.1165+765G>A (KAT5)	NP_006379.2:n.1165+765G>A
NM_032193.3:c.*2036C>T , LRG_280t1:c.*2036C>T (RNASEH2C)	NP_115569.2:n.*2036C>T
NM_182709.2:c.1009+765G>A (KAT5)	NP_874368.1:n.1009+765G>A
NM_182710.2:c.1264+765G>A (KAT5)	NP_874369.1:n.1264+765G>A
XM_006718421.1:c.1192+765G>A (KAT5)	XP_006718484.1:n.1192+765G>A
XM_011544733.1:c.1196+761G>A (KAT5)	XP_011543035.1:n.1196+761G>A
XM_006718421.3:c.1192+765G>A (KAT5)	XP_006718484.1:n.1192+765G>A
XR_001747726.2:n.1446+761G>A (KAT5)
XR_001747727.2:n.1411+761G>A (KAT5)
XR_001747728.1:n.1127+761G>A (KAT5)
XR_002957116.1:n.3006+761G>A (KAT5)
NM_182710.3:c.1264+765G>A (KAT5) MANE Select	NP_874369.1:n.1264+765G>A
NM_001206833.2:c.1108+765G>A (KAT5)	NP_001193762.1:n.1108+765G>A
NM_006388.4:c.1165+765G>A (KAT5)	NP_006379.2:n.1165+765G>A
NM_032193.4:c.*2036C>T (RNASEH2C) MANE Select	NP_115569.2:n.*2036C>T
NM_182709.3:c.1009+765G>A (KAT5)	NP_874368.1:n.1009+765G>A