Canonical Allele Identifier: CA7828083

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2040004G>A , CM000678.2:g.2040004G>A	GRCh38
NC_000016.9:g.2090005G>A , CM000678.1:g.2090005G>A	GRCh37
NC_000016.8:g.2030006G>A	NCBI36
NG_008412.1:g.12863C>T
NG_047104.1:g.18137G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.835C>T MANE Select	NP_002519.2:p.Gln279Ter
ENST00000651570.2:c.835C>T MANE Select	ENSP00000498421.1:p.Gln279Ter
NM_001318193.1:c.688C>T	NP_001305122.1:p.Gln230Ter
NM_001318193.2:c.664C>T	NP_001305122.2:p.Gln222Ter
NM_001318194.1:c.505C>T	NP_001305123.1:p.Gln169Ter
NM_001318194.2:c.505C>T	NP_001305123.1:p.Gln169Ter
NM_002528.5:c.859C>T	NP_002519.1:p.Gln287Ter
NM_002528.6:c.859C>T	NP_002519.1:p.Gln287Ter
ENST00000219066.5:c.859C>T	ENSP00000219066.1:p.Gln287Ter
ENST00000561841.1:c.900C>T
ENST00000561862.5:n.380C>T
ENST00000562951.5:n.340C>T
ENST00000565406.5:n.507C>T
ENST00000566380.5:c.630C>T
ENST00000567727.5:n.387C>T
ENST00000568513.5:c.654C>T
ENST00000651522.1:c.547C>T	ENSP00000498290.1:p.Gln183Ter
ENST00000651583.1:c.619C>T	ENSP00000498821.1:p.Gln207Ter
XM_011522505.1:c.688C>T	XP_011520807.1:p.Gln230Ter
XM_017023253.1:c.944C>T	XP_016878742.1:p.Pro315Leu