Canonical Allele Identifier: CA394290951

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2043587C>T , CM000678.2:g.2043587C>T	GRCh38
NC_000016.9:g.2093588C>T , CM000678.1:g.2093588C>T	GRCh37
NC_000016.8:g.2033589C>T	NCBI36
NG_008412.1:g.9280G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.665G>A MANE Select	NP_002519.2:p.Trp222Ter
ENST00000651570.2:c.665G>A MANE Select	ENSP00000498421.1:p.Trp222Ter
NM_001318193.1:c.518G>A	NP_001305122.1:p.Trp173Ter
NM_001318193.2:c.494G>A	NP_001305122.2:p.Trp165Ter
NM_001318194.1:c.335G>A	NP_001305123.1:p.Trp112Ter
NM_001318194.2:c.335G>A	NP_001305123.1:p.Trp112Ter
NM_002528.5:c.689G>A	NP_002519.1:p.Trp230Ter
NM_002528.6:c.689G>A	NP_002519.1:p.Trp230Ter
ENST00000219066.5:c.689G>A	ENSP00000219066.1:p.Trp230Ter
ENST00000561841.1:c.585G>A
ENST00000562120.1:n.398G>A
ENST00000562951.5:n.170G>A
ENST00000565406.5:n.337G>A
ENST00000566380.5:c.457G>A
ENST00000567727.5:n.217G>A
ENST00000568513.5:c.484G>A
ENST00000651522.1:c.374G>A	ENSP00000498290.1:p.Trp125Ter
ENST00000651583.1:c.449G>A	ENSP00000498821.1:p.Trp150Ter
XM_011522505.1:c.518G>A	XP_011520807.1:p.Trp173Ter
XM_017023253.1:c.689G>A	XP_016878742.1:p.Trp230Ter