Canonical Allele Identifier: CA223998414

Gene: RNASEH2C KAT5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65719488G>A , CM000673.2:g.65719488G>A	GRCh38
NC_000011.9:g.65486959G>A , CM000673.1:g.65486959G>A	GRCh37
NC_000011.8:g.65243535G>A	NCBI36
NG_008976.2:g.6451C>T , LRG_280:g.6451C>T
NG_033057.1:g.12487G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_032193.4:c.*295C>T (RNASEH2C) MANE Select	NP_115569.2:n.*295C>T
NM_182710.3:c.*307G>A (KAT5) MANE Select	NP_874369.1:n.*307G>A
ENST00000308418.10:c.*295C>T (RNASEH2C) MANE Select	ENSP00000308193.5:n.*295C>T
ENST00000341318.9:c.*307G>A (KAT5) MANE Select	ENSP00000340330.4:n.*307G>A
NM_001206833.1:c.*307G>A (KAT5)	NP_001193762.1:n.*307G>A
NM_001206833.2:c.*307G>A (KAT5)	NP_001193762.1:n.*307G>A
NM_006388.3:c.*307G>A (KAT5)	NP_006379.2:n.*307G>A
NM_006388.4:c.*307G>A (KAT5)	NP_006379.2:n.*307G>A
NM_032193.3:c.*295C>T , LRG_280t1:c.*295C>T (RNASEH2C)	NP_115569.2:n.*295C>T
NM_182709.2:c.*307G>A (KAT5)	NP_874368.1:n.*307G>A
NM_182709.3:c.*307G>A (KAT5)	NP_874368.1:n.*307G>A
NM_182710.2:c.*307G>A (KAT5)	NP_874369.1:n.*307G>A
ENST00000308418.8:c.*295C>T (RNASEH2C)	ENSP00000308193.4:n.*295C>T
ENST00000341318.8:c.*307G>A (KAT5)	ENSP00000340330.4:n.*307G>A
ENST00000352980.8:c.*307G>A (KAT5)	ENSP00000344955.4:n.*307G>A
ENST00000377046.7:c.*307G>A (KAT5)	ENSP00000366245.3:n.*307G>A
ENST00000528220.1:c.*295C>T (RNASEH2C)	ENSP00000431555.1:n.*295C>T
ENST00000528220.2:n.1019C>T (RNASEH2C)
ENST00000531596.5:c.578+193C>T (RNASEH2C)
ENST00000531596.6:c.*102+193C>T (RNASEH2C)	ENSP00000435717.2:n.*102+193C>T
ENST00000533596.1:c.594G>A (KAT5)
ENST00000533698.5:c.476+193C>T (RNASEH2C)
ENST00000534482.5:c.491+193C>T (RNASEH2C)
ENST00000534482.6:c.*295C>T (RNASEH2C)	ENSP00000432081.2:n.*295C>T
ENST00000534650.5:c.*307G>A (KAT5)	ENSP00000431819.1:n.*307G>A
ENST00000642430.1:n.490+193C>T (RNASEH2C)
ENST00000643214.1:n.864C>T (RNASEH2C)
ENST00000644142.1:c.*102+193C>T (RNASEH2C)	ENSP00000493695.1:n.*102+193C>T
ENST00000644198.1:n.494+193C>T (RNASEH2C)
ENST00000646597.1:n.534+193C>T (RNASEH2C)
XM_006718421.1:c.*307G>A (KAT5)	XP_006718484.1:n.*307G>A
XM_006718421.3:c.*307G>A (KAT5)	XP_006718484.1:n.*307G>A
XR_001747726.2:n.2130G>A (KAT5)
XR_001747727.2:n.2095G>A (KAT5)
XR_001747728.1:n.1811G>A (KAT5)
XR_002957116.1:n.3690G>A (KAT5)