Canonical Allele Identifier: CA492952720

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2044630C>T , CM000678.2:g.2044630C>T	GRCh38
NC_000016.9:g.2094631C>T , CM000678.1:g.2094631C>T	GRCh37
NC_000016.8:g.2034632C>T	NCBI36
NG_005895.1:g.325C>T , LRG_487:g.325C>T
NG_008412.1:g.8237G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.525G>A MANE Select	NP_002519.2:p.Arg175=
ENST00000651570.2:c.525G>A MANE Select	ENSP00000498421.1:p.Arg175=
NM_001318193.1:c.379-904G>A	NP_001305122.1:n.379-904G>A
NM_001318193.2:c.355-904G>A	NP_001305122.2:n.355-904G>A
NM_001318194.1:c.195G>A	NP_001305123.1:p.Arg65=
NM_001318194.2:c.195G>A	NP_001305123.1:p.Arg65=
NM_002528.5:c.549G>A	NP_002519.1:p.Arg183=
NM_002528.6:c.549G>A	NP_002519.1:p.Arg183=
ENST00000219066.5:c.549G>A	ENSP00000219066.1:p.Arg183=
ENST00000561841.1:c.445G>A
ENST00000562120.1:n.258G>A
ENST00000565406.5:n.197G>A
ENST00000566380.5:c.318-904G>A
ENST00000568513.5:c.344G>A
ENST00000651522.1:c.234G>A	ENSP00000498290.1:p.Arg78=
ENST00000651583.1:c.310-904G>A	ENSP00000498821.1:n.310-904G>A
XM_011522505.1:c.379-904G>A	XP_011520807.1:n.379-904G>A
XM_017023253.1:c.549G>A	XP_016878742.1:p.Arg183=