Canonical Allele Identifier: CA7828192

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2043639C>T , CM000678.2:g.2043639C>T	GRCh38
NC_000016.9:g.2093640C>T , CM000678.1:g.2093640C>T	GRCh37
NC_000016.8:g.2033641C>T	NCBI36
NG_008412.1:g.9228G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.613G>A MANE Select	NP_002519.2:p.Ala205Thr
ENST00000651570.2:c.613G>A MANE Select	ENSP00000498421.1:p.Ala205Thr
NM_001318193.1:c.466G>A	NP_001305122.1:p.Ala156Thr
NM_001318193.2:c.442G>A	NP_001305122.2:p.Ala148Thr
NM_001318194.1:c.283G>A	NP_001305123.1:p.Ala95Thr
NM_001318194.2:c.283G>A	NP_001305123.1:p.Ala95Thr
NM_002528.5:c.637G>A	NP_002519.1:p.Ala213Thr
NM_002528.6:c.637G>A	NP_002519.1:p.Ala213Thr
ENST00000219066.5:c.637G>A	ENSP00000219066.1:p.Ala213Thr
ENST00000561841.1:c.533G>A
ENST00000562120.1:n.346G>A
ENST00000562951.5:n.118G>A
ENST00000565406.5:n.285G>A
ENST00000566380.5:c.405G>A
ENST00000567727.5:n.165G>A
ENST00000568513.5:c.432G>A
ENST00000651522.1:c.322G>A	ENSP00000498290.1:p.Ala108Thr
ENST00000651583.1:c.397G>A	ENSP00000498821.1:p.Ala133Thr
XM_011522505.1:c.466G>A	XP_011520807.1:p.Ala156Thr
XM_017023253.1:c.637G>A	XP_016878742.1:p.Ala213Thr