Canonical Allele Identifier: CA394288951

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2040179T>A , CM000678.2:g.2040179T>A	GRCh38
NC_000016.9:g.2090180T>A , CM000678.1:g.2090180T>A	GRCh37
NC_000016.8:g.2030181T>A	NCBI36
NG_008412.1:g.12688A>T
NG_047104.1:g.18312T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.745A>T MANE Select	NP_002519.2:p.Lys249Ter
ENST00000651570.2:c.745A>T MANE Select	ENSP00000498421.1:p.Lys249Ter
NM_001318193.1:c.598A>T	NP_001305122.1:p.Lys200Ter
NM_001318193.2:c.574A>T	NP_001305122.2:p.Lys192Ter
NM_001318194.1:c.415A>T	NP_001305123.1:p.Lys139Ter
NM_001318194.2:c.415A>T	NP_001305123.1:p.Lys139Ter
NM_002528.5:c.769A>T	NP_002519.1:p.Lys257Ter
NM_002528.6:c.769A>T	NP_002519.1:p.Lys257Ter
ENST00000219066.5:c.769A>T	ENSP00000219066.1:p.Lys257Ter
ENST00000561841.1:c.810A>T
ENST00000561862.5:n.290A>T
ENST00000562951.5:n.250A>T
ENST00000565406.5:n.417A>T
ENST00000566380.5:c.540A>T
ENST00000567727.5:n.297A>T
ENST00000568513.5:c.564A>T
ENST00000651522.1:c.457A>T	ENSP00000498290.1:p.Lys153Ter
ENST00000651583.1:c.529A>T	ENSP00000498821.1:p.Lys177Ter
XM_011522505.1:c.598A>T	XP_011520807.1:p.Lys200Ter
XM_017023253.1:c.769A>T	XP_016878742.1:p.Lys257Ter