Canonical Allele Identifier: CA7828085

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2040007C>T , CM000678.2:g.2040007C>T	GRCh38
NC_000016.9:g.2090008C>T , CM000678.1:g.2090008C>T	GRCh37
NC_000016.8:g.2030009C>T	NCBI36
NG_008412.1:g.12860G>A
NG_047104.1:g.18140C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.832G>A MANE Select	NP_002519.2:p.Gly278Ser
ENST00000651570.2:c.832G>A MANE Select	ENSP00000498421.1:p.Gly278Ser
NM_001318193.1:c.685G>A	NP_001305122.1:p.Gly229Ser
NM_001318193.2:c.661G>A	NP_001305122.2:p.Gly221Ser
NM_001318194.1:c.502G>A	NP_001305123.1:p.Gly168Ser
NM_001318194.2:c.502G>A	NP_001305123.1:p.Gly168Ser
NM_002528.5:c.856G>A	NP_002519.1:p.Gly286Ser
NM_002528.6:c.856G>A	NP_002519.1:p.Gly286Ser
ENST00000219066.5:c.856G>A	ENSP00000219066.1:p.Gly286Ser
ENST00000561841.1:c.897G>A
ENST00000561862.5:n.377G>A
ENST00000562951.5:n.337G>A
ENST00000565406.5:n.504G>A
ENST00000566380.5:c.627G>A
ENST00000567727.5:n.384G>A
ENST00000568513.5:c.651G>A
ENST00000651522.1:c.544G>A	ENSP00000498290.1:p.Gly182Ser
ENST00000651583.1:c.616G>A	ENSP00000498821.1:p.Gly206Ser
XM_011522505.1:c.685G>A	XP_011520807.1:p.Gly229Ser
XM_017023253.1:c.941G>A	XP_016878742.1:p.Arg314Gln