Canonical Allele Identifier: CA6107525

Gene: RNASEH2C KAT5

Linked Data

• ClinVar Variation Id: 305338
• ClinVar RCV Id: RCV000264653
• dbSNP Id: rs4645938
• ExAC: 11:65486237 C / T
• gnomAD v2: 11-65486237-C-T
• gnomAD v3: 11-65718766-C-T
• gnomAD v4: 11-65718766-C-T
• MyVariant Identifiers: chr11:g.65486237C>T (hg19) ; chr11:g.65718766C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65718766C>T , CM000673.2:g.65718766C>T	GRCh38
NC_000011.9:g.65486237C>T , CM000673.1:g.65486237C>T	GRCh37
NC_000011.8:g.65242813C>T	NCBI36
NG_008976.2:g.7173G>A , LRG_280:g.7173G>A
NG_033057.1:g.11765C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308418.10:c.*1017G>A (RNASEH2C) MANE Select	ENSP00000308193.5:n.*1017G>A
ENST00000341318.9:c.1424+17C>T (KAT5) MANE Select	ENSP00000340330.4:n.1424+17C>T
ENST00000528220.2:n.1741G>A (RNASEH2C)
ENST00000531596.6:c.*493G>A (RNASEH2C)	ENSP00000435717.2:n.*493G>A
ENST00000534482.6:c.*1017G>A (RNASEH2C)	ENSP00000432081.2:n.*1017G>A
ENST00000642430.1:n.881G>A (RNASEH2C)
ENST00000643214.1:n.1586G>A (RNASEH2C)
ENST00000644142.1:c.*159G>A (RNASEH2C)	ENSP00000493695.1:n.*159G>A
ENST00000644198.1:n.494+915G>A (RNASEH2C)
ENST00000646597.1:n.535-873G>A (RNASEH2C)
ENST00000308418.8:c.*1017G>A (RNASEH2C)	ENSP00000308193.4:n.*1017G>A
ENST00000341318.8:c.1424+17C>T (KAT5)	ENSP00000340330.4:n.1424+17C>T
ENST00000352980.8:c.1169+17C>T (KAT5)	ENSP00000344955.4:n.1169+17C>T
ENST00000377046.7:c.1325+17C>T (KAT5)	ENSP00000366245.3:n.1325+17C>T
ENST00000525600.1:n.406+17C>T (KAT5)
ENST00000530446.5:c.1268+17C>T (KAT5)	ENSP00000434765.1:n.1268+17C>T
ENST00000533596.1:c.61C>T (KAT5)
ENST00000533698.5:c.480G>A (RNASEH2C)
ENST00000534482.5:c.491+915G>A (RNASEH2C)
ENST00000534650.5:c.692+17C>T (KAT5)	ENSP00000431819.1:n.692+17C>T
NM_001206833.1:c.1268+17C>T (KAT5)	NP_001193762.1:n.1268+17C>T
NM_006388.3:c.1325+17C>T (KAT5)	NP_006379.2:n.1325+17C>T
NM_032193.3:c.*1017G>A , LRG_280t1:c.*1017G>A (RNASEH2C)	NP_115569.2:n.*1017G>A
NM_182709.2:c.1169+17C>T (KAT5)	NP_874368.1:n.1169+17C>T
NM_182710.2:c.1424+17C>T (KAT5)	NP_874369.1:n.1424+17C>T
XM_006718421.1:c.1352+17C>T (KAT5)	XP_006718484.1:n.1352+17C>T
XM_006718421.3:c.1352+17C>T (KAT5)	XP_006718484.1:n.1352+17C>T
XR_001747726.2:n.1606+17C>T (KAT5)
XR_001747727.2:n.1571+17C>T (KAT5)
XR_001747728.1:n.1287+17C>T (KAT5)
XR_002957116.1:n.3166+17C>T (KAT5)
NM_182710.3:c.1424+17C>T (KAT5) MANE Select	NP_874369.1:n.1424+17C>T
NM_001206833.2:c.1268+17C>T (KAT5)	NP_001193762.1:n.1268+17C>T
NM_006388.4:c.1325+17C>T (KAT5)	NP_006379.2:n.1325+17C>T
NM_032193.4:c.*1017G>A (RNASEH2C) MANE Select	NP_115569.2:n.*1017G>A
NM_182709.3:c.1169+17C>T (KAT5)	NP_874368.1:n.1169+17C>T