Canonical Allele Identifier: CA394289027

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2040188T>A , CM000678.2:g.2040188T>A	GRCh38
NC_000016.9:g.2090189T>A , CM000678.1:g.2090189T>A	GRCh37
NC_000016.8:g.2030190T>A	NCBI36
NG_008412.1:g.12679A>T
NG_047104.1:g.18321T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.736A>T MANE Select	NP_002519.2:p.Lys246Ter
ENST00000651570.2:c.736A>T MANE Select	ENSP00000498421.1:p.Lys246Ter
NM_001318193.1:c.589A>T	NP_001305122.1:p.Lys197Ter
NM_001318193.2:c.565A>T	NP_001305122.2:p.Lys189Ter
NM_001318194.1:c.406A>T	NP_001305123.1:p.Lys136Ter
NM_001318194.2:c.406A>T	NP_001305123.1:p.Lys136Ter
NM_002528.5:c.760A>T	NP_002519.1:p.Lys254Ter
NM_002528.6:c.760A>T	NP_002519.1:p.Lys254Ter
ENST00000219066.5:c.760A>T	ENSP00000219066.1:p.Lys254Ter
ENST00000561841.1:c.801A>T
ENST00000561862.5:n.281A>T
ENST00000562951.5:n.241A>T
ENST00000565406.5:n.408A>T
ENST00000566380.5:c.531A>T
ENST00000567727.5:n.288A>T
ENST00000568513.5:c.555A>T
ENST00000651522.1:c.448A>T	ENSP00000498290.1:p.Lys150Ter
ENST00000651583.1:c.520A>T	ENSP00000498821.1:p.Lys174Ter
XM_011522505.1:c.589A>T	XP_011520807.1:p.Lys197Ter
XM_017023253.1:c.760A>T	XP_016878742.1:p.Lys254Ter