Canonical Allele Identifier: CA7828125

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2040161G>A , CM000678.2:g.2040161G>A	GRCh38
NC_000016.9:g.2090162G>A , CM000678.1:g.2090162G>A	GRCh37
NC_000016.8:g.2030163G>A	NCBI36
NG_008412.1:g.12706C>T
NG_047104.1:g.18294G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.763C>T MANE Select	NP_002519.2:p.Arg255Cys
ENST00000651570.2:c.763C>T MANE Select	ENSP00000498421.1:p.Arg255Cys
NM_001318193.1:c.616C>T	NP_001305122.1:p.Arg206Cys
NM_001318193.2:c.592C>T	NP_001305122.2:p.Arg198Cys
NM_001318194.1:c.433C>T	NP_001305123.1:p.Arg145Cys
NM_001318194.2:c.433C>T	NP_001305123.1:p.Arg145Cys
NM_002528.5:c.787C>T	NP_002519.1:p.Arg263Cys
NM_002528.6:c.787C>T	NP_002519.1:p.Arg263Cys
ENST00000219066.5:c.787C>T	ENSP00000219066.1:p.Arg263Cys
ENST00000561841.1:c.828C>T
ENST00000561862.5:n.308C>T
ENST00000562951.5:n.268C>T
ENST00000565406.5:n.435C>T
ENST00000566380.5:c.558C>T
ENST00000567727.5:n.315C>T
ENST00000568513.5:c.582C>T
ENST00000651522.1:c.475C>T	ENSP00000498290.1:p.Arg159Cys
ENST00000651583.1:c.547C>T	ENSP00000498821.1:p.Arg183Cys
XM_011522505.1:c.616C>T	XP_011520807.1:p.Arg206Cys
XM_017023253.1:c.787C>T	XP_016878742.1:p.Arg263Cys