Canonical Allele Identifier: CA7828190

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2043637C>T , CM000678.2:g.2043637C>T	GRCh38
NC_000016.9:g.2093638C>T , CM000678.1:g.2093638C>T	GRCh37
NC_000016.8:g.2033639C>T	NCBI36
NG_008412.1:g.9230G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651522.1:c.324G>A	ENSP00000498290.1:p.Ala108=
ENST00000651570.2:c.615G>A MANE Select	ENSP00000498421.1:p.Ala205=
ENST00000651583.1:c.399G>A	ENSP00000498821.1:p.Ala133=
ENST00000219066.5:c.639G>A	ENSP00000219066.1:p.Ala213=
ENST00000561841.1:c.535G>A
ENST00000562120.1:n.348G>A
ENST00000562951.5:n.120G>A
ENST00000565406.5:n.287G>A
ENST00000566380.5:c.407G>A
ENST00000567727.5:n.167G>A
ENST00000568513.5:c.434G>A
NM_002528.5:c.639G>A	NP_002519.1:p.Ala213=
XM_011522505.1:c.468G>A	XP_011520807.1:p.Ala156=
NM_001318193.1:c.468G>A	NP_001305122.1:p.Ala156=
NM_001318194.1:c.285G>A	NP_001305123.1:p.Ala95=
NM_002528.6:c.639G>A	NP_002519.1:p.Ala213=
XM_017023253.1:c.639G>A	XP_016878742.1:p.Ala213=
NM_001318193.2:c.444G>A	NP_001305122.2:p.Ala148=
NM_002528.7:c.615G>A MANE Select	NP_002519.2:p.Ala205=
NM_001318194.2:c.285G>A	NP_001305123.1:p.Ala95=