Canonical Allele Identifier: CA394289078

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2040195C>T , CM000678.2:g.2040195C>T	GRCh38
NC_000016.9:g.2090196C>T , CM000678.1:g.2090196C>T	GRCh37
NC_000016.8:g.2030197C>T	NCBI36
NG_008412.1:g.12672G>A
NG_047104.1:g.18328C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.729G>A MANE Select	NP_002519.2:p.Trp243Ter
ENST00000651570.2:c.729G>A MANE Select	ENSP00000498421.1:p.Trp243Ter
NM_001318193.1:c.582G>A	NP_001305122.1:p.Trp194Ter
NM_001318193.2:c.558G>A	NP_001305122.2:p.Trp186Ter
NM_001318194.1:c.399G>A	NP_001305123.1:p.Trp133Ter
NM_001318194.2:c.399G>A	NP_001305123.1:p.Trp133Ter
NM_002528.5:c.753G>A	NP_002519.1:p.Trp251Ter
NM_002528.6:c.753G>A	NP_002519.1:p.Trp251Ter
ENST00000219066.5:c.753G>A	ENSP00000219066.1:p.Trp251Ter
ENST00000561841.1:c.794G>A
ENST00000561862.5:n.274G>A
ENST00000562951.5:n.234G>A
ENST00000565406.5:n.401G>A
ENST00000566380.5:c.524G>A
ENST00000567727.5:n.281G>A
ENST00000568513.5:c.548G>A
ENST00000651522.1:c.441G>A	ENSP00000498290.1:p.Trp147Ter
ENST00000651583.1:c.513G>A	ENSP00000498821.1:p.Trp171Ter
XM_011522505.1:c.582G>A	XP_011520807.1:p.Trp194Ter
XM_017023253.1:c.753G>A	XP_016878742.1:p.Trp251Ter