Canonical Allele Identifier: CA394291627

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2043648C>A , CM000678.2:g.2043648C>A	GRCh38
NC_000016.9:g.2093649C>A , CM000678.1:g.2093649C>A	GRCh37
NC_000016.8:g.2033650C>A	NCBI36
NG_008412.1:g.9219G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.604G>T MANE Select	NP_002519.2:p.Glu202Ter
ENST00000651570.2:c.604G>T MANE Select	ENSP00000498421.1:p.Glu202Ter
NM_001318193.1:c.457G>T	NP_001305122.1:p.Glu153Ter
NM_001318193.2:c.433G>T	NP_001305122.2:p.Glu145Ter
NM_001318194.1:c.274G>T	NP_001305123.1:p.Glu92Ter
NM_001318194.2:c.274G>T	NP_001305123.1:p.Glu92Ter
NM_002528.5:c.628G>T	NP_002519.1:p.Glu210Ter
NM_002528.6:c.628G>T	NP_002519.1:p.Glu210Ter
ENST00000219066.5:c.628G>T	ENSP00000219066.1:p.Glu210Ter
ENST00000561841.1:c.524G>T
ENST00000562120.1:n.337G>T
ENST00000562951.5:n.109G>T
ENST00000565406.5:n.276G>T
ENST00000566380.5:c.396G>T
ENST00000567727.5:n.156G>T
ENST00000568513.5:c.423G>T
ENST00000651522.1:c.313G>T	ENSP00000498290.1:p.Glu105Ter
ENST00000651583.1:c.388G>T	ENSP00000498821.1:p.Glu130Ter
XM_011522505.1:c.457G>T	XP_011520807.1:p.Glu153Ter
XM_017023253.1:c.628G>T	XP_016878742.1:p.Glu210Ter