Canonical Allele Identifier: CA10631180

Gene: RNASEH2C KAT5

Linked Data

• ClinVar Variation Id: 305331
• ClinVar RCV Id: RCV000348807
• dbSNP Id: rs886048488
• gnomAD v2: 11-65485596-C-G
• gnomAD v3: 11-65718125-C-G
• gnomAD v4: 11-65718125-C-G
• MyVariant Identifiers: chr11:g.65485596C>G (hg19) ; chr11:g.65718125C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65718125C>G , CM000673.2:g.65718125C>G	GRCh38
NC_000011.9:g.65485596C>G , CM000673.1:g.65485596C>G	GRCh37
NC_000011.8:g.65242172C>G	NCBI36
NG_008976.2:g.7814G>C , LRG_280:g.7814G>C
NG_033057.1:g.11124C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308418.10:c.*1658G>C (RNASEH2C) MANE Select	ENSP00000308193.5:n.*1658G>C
ENST00000341318.9:c.1265-465C>G (KAT5) MANE Select	ENSP00000340330.4:n.1265-465C>G
ENST00000528220.2:n.2382G>C (RNASEH2C)
ENST00000531596.6:c.*1134G>C (RNASEH2C)	ENSP00000435717.2:n.*1134G>C
ENST00000534482.6:c.*1658G>C (RNASEH2C)	ENSP00000432081.2:n.*1658G>C
ENST00000642430.1:n.1522G>C (RNASEH2C)
ENST00000643214.1:n.2227G>C (RNASEH2C)
ENST00000644142.1:c.*800G>C (RNASEH2C)	ENSP00000493695.1:n.*800G>C
ENST00000644198.1:n.494+1556G>C (RNASEH2C)
ENST00000645835.1:n.345G>C (RNASEH2C)
ENST00000646597.1:n.535-232G>C (RNASEH2C)
ENST00000308418.8:c.*1658G>C (RNASEH2C)	ENSP00000308193.4:n.*1658G>C
ENST00000341318.8:c.1265-465C>G (KAT5)	ENSP00000340330.4:n.1265-465C>G
ENST00000352980.8:c.1010-465C>G (KAT5)	ENSP00000344955.4:n.1010-465C>G
ENST00000377046.7:c.1166-465C>G (KAT5)	ENSP00000366245.3:n.1166-465C>G
ENST00000530446.5:c.1109-465C>G (KAT5)	ENSP00000434765.1:n.1109-465C>G
ENST00000534482.5:c.491+1556G>C (RNASEH2C)
ENST00000534650.5:c.533-465C>G (KAT5)	ENSP00000431819.1:n.533-465C>G
NM_001206833.1:c.1109-465C>G (KAT5)	NP_001193762.1:n.1109-465C>G
NM_006388.3:c.1166-465C>G (KAT5)	NP_006379.2:n.1166-465C>G
NM_032193.3:c.*1658G>C , LRG_280t1:c.*1658G>C (RNASEH2C)	NP_115569.2:n.*1658G>C
NM_182709.2:c.1010-465C>G (KAT5)	NP_874368.1:n.1010-465C>G
NM_182710.2:c.1265-465C>G (KAT5)	NP_874369.1:n.1265-465C>G
XM_006718421.1:c.1193-465C>G (KAT5)	XP_006718484.1:n.1193-465C>G
XM_011544733.1:c.1197-465C>G (KAT5)	XP_011543035.1:n.1197-465C>G
XM_006718421.3:c.1193-465C>G (KAT5)	XP_006718484.1:n.1193-465C>G
XR_001747726.2:n.1447-465C>G (KAT5)
XR_001747727.2:n.1412-465C>G (KAT5)
XR_001747728.1:n.1128-465C>G (KAT5)
XR_002957116.1:n.3007-465C>G (KAT5)
NM_182710.3:c.1265-465C>G (KAT5) MANE Select	NP_874369.1:n.1265-465C>G
NM_001206833.2:c.1109-465C>G (KAT5)	NP_001193762.1:n.1109-465C>G
NM_006388.4:c.1166-465C>G (KAT5)	NP_006379.2:n.1166-465C>G
NM_032193.4:c.*1658G>C (RNASEH2C) MANE Select	NP_115569.2:n.*1658G>C
NM_182709.3:c.1010-465C>G (KAT5)	NP_874368.1:n.1010-465C>G