Canonical Allele Identifier: CA7828202

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2043696C>T , CM000678.2:g.2043696C>T	GRCh38
NC_000016.9:g.2093697C>T , CM000678.1:g.2093697C>T	GRCh37
NC_000016.8:g.2033698C>T	NCBI36
NG_008412.1:g.9171G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.556G>A MANE Select	NP_002519.2:p.Ala186Thr
ENST00000651570.2:c.556G>A MANE Select	ENSP00000498421.1:p.Ala186Thr
NM_001318193.1:c.409G>A	NP_001305122.1:p.Ala137Thr
NM_001318193.2:c.385G>A	NP_001305122.2:p.Ala129Thr
NM_001318194.1:c.226G>A	NP_001305123.1:p.Ala76Thr
NM_001318194.2:c.226G>A	NP_001305123.1:p.Ala76Thr
NM_002528.5:c.580G>A	NP_002519.1:p.Ala194Thr
NM_002528.6:c.580G>A	NP_002519.1:p.Ala194Thr
ENST00000219066.5:c.580G>A	ENSP00000219066.1:p.Ala194Thr
ENST00000561841.1:c.476G>A
ENST00000562120.1:n.289G>A
ENST00000562951.5:n.61G>A
ENST00000565406.5:n.228G>A
ENST00000566380.5:c.348G>A
ENST00000567727.5:n.108G>A
ENST00000568513.5:c.375G>A
ENST00000651522.1:c.265G>A	ENSP00000498290.1:p.Ala89Thr
ENST00000651583.1:c.340G>A	ENSP00000498821.1:p.Ala114Thr
XM_011522505.1:c.409G>A	XP_011520807.1:p.Ala137Thr
XM_017023253.1:c.580G>A	XP_016878742.1:p.Ala194Thr