Canonical Allele Identifier: CA7828117

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2040142C>T , CM000678.2:g.2040142C>T	GRCh38
NC_000016.9:g.2090143C>T , CM000678.1:g.2090143C>T	GRCh37
NC_000016.8:g.2030144C>T	NCBI36
NG_008412.1:g.12725G>A
NG_047104.1:g.18275C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.782G>A MANE Select	NP_002519.2:p.Trp261Ter
ENST00000651570.2:c.782G>A MANE Select	ENSP00000498421.1:p.Trp261Ter
NM_001318193.1:c.635G>A	NP_001305122.1:p.Trp212Ter
NM_001318193.2:c.611G>A	NP_001305122.2:p.Trp204Ter
NM_001318194.1:c.452G>A	NP_001305123.1:p.Trp151Ter
NM_001318194.2:c.452G>A	NP_001305123.1:p.Trp151Ter
NM_002528.5:c.806G>A	NP_002519.1:p.Trp269Ter
NM_002528.6:c.806G>A	NP_002519.1:p.Trp269Ter
ENST00000219066.5:c.806G>A	ENSP00000219066.1:p.Trp269Ter
ENST00000561841.1:c.847G>A
ENST00000561862.5:n.327G>A
ENST00000562951.5:n.287G>A
ENST00000565406.5:n.454G>A
ENST00000566380.5:c.577G>A
ENST00000567727.5:n.334G>A
ENST00000568513.5:c.601G>A
ENST00000651522.1:c.494G>A	ENSP00000498290.1:p.Trp165Ter
ENST00000651583.1:c.566G>A	ENSP00000498821.1:p.Trp189Ter
XM_011522505.1:c.635G>A	XP_011520807.1:p.Trp212Ter
XM_017023253.1:c.806G>A	XP_016878742.1:p.Trp269Ter