Canonical Allele Identifier: CA7828136

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2040212C>T , CM000678.2:g.2040212C>T	GRCh38
NC_000016.9:g.2090213C>T , CM000678.1:g.2090213C>T	GRCh37
NC_000016.8:g.2030214C>T	NCBI36
NG_008412.1:g.12655G>A
NG_047104.1:g.18345C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.712G>A MANE Select	NP_002519.2:p.Ala238Thr
ENST00000651570.2:c.712G>A MANE Select	ENSP00000498421.1:p.Ala238Thr
NM_001318193.1:c.565G>A	NP_001305122.1:p.Ala189Thr
NM_001318193.2:c.541G>A	NP_001305122.2:p.Ala181Thr
NM_001318194.1:c.382G>A	NP_001305123.1:p.Ala128Thr
NM_001318194.2:c.382G>A	NP_001305123.1:p.Ala128Thr
NM_002528.5:c.736G>A	NP_002519.1:p.Ala246Thr
NM_002528.6:c.736G>A	NP_002519.1:p.Ala246Thr
ENST00000219066.5:c.736G>A	ENSP00000219066.1:p.Ala246Thr
ENST00000561841.1:c.777G>A
ENST00000561862.5:n.257G>A
ENST00000562951.5:n.217G>A
ENST00000565406.5:n.384G>A
ENST00000566380.5:c.507G>A
ENST00000567727.5:n.264G>A
ENST00000568513.5:c.531G>A
ENST00000651522.1:c.424G>A	ENSP00000498290.1:p.Ala142Thr
ENST00000651583.1:c.496G>A	ENSP00000498821.1:p.Ala166Thr
XM_011522505.1:c.565G>A	XP_011520807.1:p.Ala189Thr
XM_017023253.1:c.736G>A	XP_016878742.1:p.Ala246Thr