Canonical Allele Identifier: CA10639665

Gene: RNASEH2C KAT5

Linked Data

• ClinVar Variation Id: 305344
• ClinVar RCV Id: RCV000295343
• dbSNP Id: rs886048493
• gnomAD v4: 11-65719077-A-T
• MyVariant Identifiers: chr11:g.65486548A>T (hg19) ; chr11:g.65719077A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65719077A>T , CM000673.2:g.65719077A>T	GRCh38
NC_000011.9:g.65486548A>T , CM000673.1:g.65486548A>T	GRCh37
NC_000011.8:g.65243124A>T	NCBI36
NG_008976.2:g.6862T>A , LRG_280:g.6862T>A
NG_033057.1:g.12076A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308418.10:c.*706T>A (RNASEH2C) MANE Select	ENSP00000308193.5:n.*706T>A
ENST00000341318.9:c.1537A>T (KAT5) MANE Select	ENSP00000340330.4:p.Ile513Phe
ENST00000528220.2:n.1430T>A (RNASEH2C)
ENST00000531596.6:c.*182T>A (RNASEH2C)	ENSP00000435717.2:n.*182T>A
ENST00000534482.6:c.*706T>A (RNASEH2C)	ENSP00000432081.2:n.*706T>A
ENST00000642430.1:n.570T>A (RNASEH2C)
ENST00000643214.1:n.1275T>A (RNASEH2C)
ENST00000644142.1:c.*103-255T>A (RNASEH2C)	ENSP00000493695.1:n.*103-255T>A
ENST00000644198.1:n.494+604T>A (RNASEH2C)
ENST00000646597.1:n.534+604T>A (RNASEH2C)
ENST00000308418.8:c.*706T>A (RNASEH2C)	ENSP00000308193.4:n.*706T>A
ENST00000341318.8:c.1537A>T (KAT5)	ENSP00000340330.4:p.Ile513Phe
ENST00000352980.8:c.1282A>T (KAT5)	ENSP00000344955.4:p.Ile428Phe
ENST00000377046.7:c.1438A>T (KAT5)	ENSP00000366245.3:p.Ile480Phe
ENST00000530446.5:c.1381A>T (KAT5)	ENSP00000434765.1:p.Ile461Phe
ENST00000531596.5:c.658T>A (RNASEH2C)
ENST00000533596.1:c.183A>T (KAT5)
ENST00000533698.5:c.477-308T>A (RNASEH2C)
ENST00000534482.5:c.491+604T>A (RNASEH2C)
ENST00000534650.5:c.805A>T (KAT5)	ENSP00000431819.1:p.Ile269Phe
NM_001206833.1:c.1381A>T (KAT5)	NP_001193762.1:p.Ile461Phe
NM_006388.3:c.1438A>T (KAT5)	NP_006379.2:p.Ile480Phe
NM_032193.3:c.*706T>A , LRG_280t1:c.*706T>A (RNASEH2C)	NP_115569.2:n.*706T>A
NM_182709.2:c.1282A>T (KAT5)	NP_874368.1:p.Ile428Phe
NM_182710.2:c.1537A>T (KAT5)	NP_874369.1:p.Ile513Phe
XM_006718421.1:c.1465A>T (KAT5)	XP_006718484.1:p.Ile489Phe
XM_006718421.3:c.1465A>T (KAT5)	XP_006718484.1:p.Ile489Phe
XR_001747726.2:n.1719A>T (KAT5)
XR_001747727.2:n.1684A>T (KAT5)
XR_001747728.1:n.1400A>T (KAT5)
XR_002957116.1:n.3279A>T (KAT5)
NM_182710.3:c.1537A>T (KAT5) MANE Select	NP_874369.1:p.Ile513Phe
NM_001206833.2:c.1381A>T (KAT5)	NP_001193762.1:p.Ile461Phe
NM_006388.4:c.1438A>T (KAT5)	NP_006379.2:p.Ile480Phe
NM_032193.4:c.*706T>A (RNASEH2C) MANE Select	NP_115569.2:n.*706T>A
NM_182709.3:c.1282A>T (KAT5)	NP_874368.1:p.Ile428Phe