Canonical Allele Identifier: CA7828090

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2040037G>A , CM000678.2:g.2040037G>A	GRCh38
NC_000016.9:g.2090038G>A , CM000678.1:g.2090038G>A	GRCh37
NC_000016.8:g.2030039G>A	NCBI36
NG_008412.1:g.12830C>T
NG_047104.1:g.18170G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.802C>T MANE Select	NP_002519.2:p.His268Tyr
ENST00000651570.2:c.802C>T MANE Select	ENSP00000498421.1:p.His268Tyr
NM_001318193.1:c.655C>T	NP_001305122.1:p.His219Tyr
NM_001318193.2:c.631C>T	NP_001305122.2:p.His211Tyr
NM_001318194.1:c.472C>T	NP_001305123.1:p.His158Tyr
NM_001318194.2:c.472C>T	NP_001305123.1:p.His158Tyr
NM_002528.5:c.826C>T	NP_002519.1:p.His276Tyr
NM_002528.6:c.826C>T	NP_002519.1:p.His276Tyr
ENST00000219066.5:c.826C>T	ENSP00000219066.1:p.His276Tyr
ENST00000561841.1:c.867C>T
ENST00000561862.5:n.347C>T
ENST00000562951.5:n.307C>T
ENST00000565406.5:n.474C>T
ENST00000566380.5:c.597C>T
ENST00000567727.5:n.354C>T
ENST00000568513.5:c.621C>T
ENST00000651522.1:c.514C>T	ENSP00000498290.1:p.His172Tyr
ENST00000651583.1:c.586C>T	ENSP00000498821.1:p.His196Tyr
XM_011522505.1:c.655C>T	XP_011520807.1:p.His219Tyr
XM_017023253.1:c.911C>T	XP_016878742.1:p.Ala304Val