Canonical Allele Identifier: CA394287589

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2040039C>T , CM000678.2:g.2040039C>T	GRCh38
NC_000016.9:g.2090040C>T , CM000678.1:g.2090040C>T	GRCh37
NC_000016.8:g.2030041C>T	NCBI36
NG_008412.1:g.12828G>A
NG_047104.1:g.18172C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.800G>A MANE Select	NP_002519.2:p.Trp267Ter
ENST00000651570.2:c.800G>A MANE Select	ENSP00000498421.1:p.Trp267Ter
NM_001318193.1:c.653G>A	NP_001305122.1:p.Trp218Ter
NM_001318193.2:c.629G>A	NP_001305122.2:p.Trp210Ter
NM_001318194.1:c.470G>A	NP_001305123.1:p.Trp157Ter
NM_001318194.2:c.470G>A	NP_001305123.1:p.Trp157Ter
NM_002528.5:c.824G>A	NP_002519.1:p.Trp275Ter
NM_002528.6:c.824G>A	NP_002519.1:p.Trp275Ter
ENST00000219066.5:c.824G>A	ENSP00000219066.1:p.Trp275Ter
ENST00000561841.1:c.865G>A
ENST00000561862.5:n.345G>A
ENST00000562951.5:n.305G>A
ENST00000565406.5:n.472G>A
ENST00000566380.5:c.595G>A
ENST00000567727.5:n.352G>A
ENST00000568513.5:c.619G>A
ENST00000651522.1:c.512G>A	ENSP00000498290.1:p.Trp171Ter
ENST00000651583.1:c.584G>A	ENSP00000498821.1:p.Trp195Ter
XM_011522505.1:c.653G>A	XP_011520807.1:p.Trp218Ter
XM_017023253.1:c.909G>A	XP_016878742.1:p.Val303=