Canonical Allele Identifier: CA394287541

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2040034C>A , CM000678.2:g.2040034C>A	GRCh38
NC_000016.9:g.2090035C>A , CM000678.1:g.2090035C>A	GRCh37
NC_000016.8:g.2030036C>A	NCBI36
NG_008412.1:g.12833G>T
NG_047104.1:g.18167C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.805G>T MANE Select	NP_002519.2:p.Glu269Ter
ENST00000651570.2:c.805G>T MANE Select	ENSP00000498421.1:p.Glu269Ter
NM_001318193.1:c.658G>T	NP_001305122.1:p.Glu220Ter
NM_001318193.2:c.634G>T	NP_001305122.2:p.Glu212Ter
NM_001318194.1:c.475G>T	NP_001305123.1:p.Glu159Ter
NM_001318194.2:c.475G>T	NP_001305123.1:p.Glu159Ter
NM_002528.5:c.829G>T	NP_002519.1:p.Glu277Ter
NM_002528.6:c.829G>T	NP_002519.1:p.Glu277Ter
ENST00000219066.5:c.829G>T	ENSP00000219066.1:p.Glu277Ter
ENST00000561841.1:c.870G>T
ENST00000561862.5:n.350G>T
ENST00000562951.5:n.310G>T
ENST00000565406.5:n.477G>T
ENST00000566380.5:c.600G>T
ENST00000567727.5:n.357G>T
ENST00000568513.5:c.624G>T
ENST00000651522.1:c.517G>T	ENSP00000498290.1:p.Glu173Ter
ENST00000651583.1:c.589G>T	ENSP00000498821.1:p.Glu197Ter
XM_011522505.1:c.658G>T	XP_011520807.1:p.Glu220Ter
XM_017023253.1:c.914G>T	XP_016878742.1:p.Arg305Leu