Canonical Allele Identifier: CA7828080

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2039996G>T , CM000678.2:g.2039996G>T	GRCh38
NC_000016.9:g.2089997G>T , CM000678.1:g.2089997G>T	GRCh37
NC_000016.8:g.2029998G>T	NCBI36
NG_008412.1:g.12871C>A
NG_047104.1:g.18129G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651522.1:c.555C>A	ENSP00000498290.1:p.Thr185=
ENST00000651570.2:c.843C>A MANE Select	ENSP00000498421.1:p.Thr281=
ENST00000651583.1:c.627C>A	ENSP00000498821.1:p.Thr209=
ENST00000219066.5:c.867C>A	ENSP00000219066.1:p.Thr289=
ENST00000561841.1:c.908C>A
ENST00000561862.5:n.388C>A
ENST00000562951.5:n.348C>A
ENST00000565406.5:n.515C>A
ENST00000566380.5:c.638C>A
ENST00000567727.5:n.395C>A
ENST00000568513.5:c.662C>A
NM_002528.5:c.867C>A	NP_002519.1:p.Thr289=
XM_011522505.1:c.696C>A	XP_011520807.1:p.Thr232=
NM_001318193.1:c.696C>A	NP_001305122.1:p.Thr232=
NM_001318194.1:c.513C>A	NP_001305123.1:p.Thr171=
NM_002528.6:c.867C>A	NP_002519.1:p.Thr289=
XM_017023253.1:c.952C>A	XP_016878742.1:p.Leu318Met
NM_001318193.2:c.672C>A	NP_001305122.2:p.Thr224=
NM_002528.7:c.843C>A MANE Select	NP_002519.2:p.Thr281=
NM_001318194.2:c.513C>A	NP_001305123.1:p.Thr171=