Canonical Allele Identifier: CA10631201
Gene: RNASEH2C HGNC NCBI
KAT5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65719327C>T , CM000673.2:g.65719327C>T GRCh38
NC_000011.9:g.65486798C>T , CM000673.1:g.65486798C>T GRCh37
NC_000011.8:g.65243374C>T NCBI36
NG_008976.2:g.6612G>A , LRG_280:g.6612G>A
NG_033057.1:g.12326C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000308418.10:c.*456G>A (RNASEH2C) MANE Select ENSP00000308193.5:n.*456G>A
ENST00000341318.9:c.*146C>T (KAT5) MANE Select ENSP00000340330.4:n.*146C>T
ENST00000528220.2:n.1180G>A (RNASEH2C)
ENST00000531596.6:c.*103-171G>A (RNASEH2C) ENSP00000435717.2:n.*103-171G>A
ENST00000534482.6:c.*456G>A (RNASEH2C) ENSP00000432081.2:n.*456G>A
ENST00000642430.1:n.491-171G>A (RNASEH2C)
ENST00000643214.1:n.1025G>A (RNASEH2C)
ENST00000644142.1:c.*102+354G>A (RNASEH2C) ENSP00000493695.1:n.*102+354G>A
ENST00000644198.1:n.494+354G>A (RNASEH2C)
ENST00000646597.1:n.534+354G>A (RNASEH2C)
ENST00000308418.8:c.*456G>A (RNASEH2C) ENSP00000308193.4:n.*456G>A
ENST00000341318.8:c.*146C>T (KAT5) ENSP00000340330.4:n.*146C>T
ENST00000352980.8:c.*146C>T (KAT5) ENSP00000344955.4:n.*146C>T
ENST00000377046.7:c.*146C>T (KAT5) ENSP00000366245.3:n.*146C>T
ENST00000528220.1:c.*456G>A (RNASEH2C) ENSP00000431555.1:n.*456G>A
ENST00000530446.5:c.*146C>T (KAT5) ENSP00000434765.1:n.*146C>T
ENST00000531596.5:c.579-171G>A (RNASEH2C)
ENST00000533596.1:c.433C>T (KAT5)
ENST00000533698.5:c.476+354G>A (RNASEH2C)
ENST00000534482.5:c.491+354G>A (RNASEH2C)
ENST00000534650.5:c.*146C>T (KAT5) ENSP00000431819.1:n.*146C>T
NM_001206833.1:c.*146C>T (KAT5) NP_001193762.1:n.*146C>T
NM_006388.3:c.*146C>T (KAT5) NP_006379.2:n.*146C>T
NM_032193.3:c.*456G>A , LRG_280t1:c.*456G>A (RNASEH2C) NP_115569.2:n.*456G>A
NM_182709.2:c.*146C>T (KAT5) NP_874368.1:n.*146C>T
NM_182710.2:c.*146C>T (KAT5) NP_874369.1:n.*146C>T
XM_006718421.1:c.*146C>T (KAT5) XP_006718484.1:n.*146C>T
XM_006718421.3:c.*146C>T (KAT5) XP_006718484.1:n.*146C>T
XR_001747726.2:n.1969C>T (KAT5)
XR_001747727.2:n.1934C>T (KAT5)
XR_001747728.1:n.1650C>T (KAT5)
XR_002957116.1:n.3529C>T (KAT5)
NM_182710.3:c.*146C>T (KAT5) MANE Select NP_874369.1:n.*146C>T
NM_001206833.2:c.*146C>T (KAT5) NP_001193762.1:n.*146C>T
NM_006388.4:c.*146C>T (KAT5) NP_006379.2:n.*146C>T
NM_032193.4:c.*456G>A (RNASEH2C) MANE Select NP_115569.2:n.*456G>A
NM_182709.3:c.*146C>T (KAT5) NP_874368.1:n.*146C>T