Canonical Allele Identifier: CA394289331

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2040229G>T , CM000678.2:g.2040229G>T	GRCh38
NC_000016.9:g.2090230G>T , CM000678.1:g.2090230G>T	GRCh37
NC_000016.8:g.2030231G>T	NCBI36
NG_008412.1:g.12638C>A
NG_047104.1:g.18362G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.695C>A MANE Select	NP_002519.2:p.Thr232Lys
ENST00000651570.2:c.695C>A MANE Select	ENSP00000498421.1:p.Thr232Lys
NM_001318193.1:c.548C>A	NP_001305122.1:p.Thr183Lys
NM_001318193.2:c.524C>A	NP_001305122.2:p.Thr175Lys
NM_001318194.1:c.365C>A	NP_001305123.1:p.Thr122Lys
NM_001318194.2:c.365C>A	NP_001305123.1:p.Thr122Lys
NM_002528.5:c.719C>A	NP_002519.1:p.Thr240Lys
NM_002528.6:c.719C>A	NP_002519.1:p.Thr240Lys
ENST00000219066.5:c.719C>A	ENSP00000219066.1:p.Thr240Lys
ENST00000561841.1:c.760C>A
ENST00000561862.5:n.240C>A
ENST00000562951.5:n.200C>A
ENST00000565406.5:n.367C>A
ENST00000566380.5:c.490C>A
ENST00000567727.5:n.247C>A
ENST00000568513.5:c.514C>A
ENST00000651522.1:c.407C>A	ENSP00000498290.1:p.Thr136Lys
ENST00000651583.1:c.479C>A	ENSP00000498821.1:p.Thr160Lys
XM_011522505.1:c.548C>A	XP_011520807.1:p.Thr183Lys
XM_017023253.1:c.719C>A	XP_016878742.1:p.Thr240Lys