Canonical Allele Identifier: CA394287665

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2040048C>T , CM000678.2:g.2040048C>T	GRCh38
NC_000016.9:g.2090049C>T , CM000678.1:g.2090049C>T	GRCh37
NC_000016.8:g.2030050C>T	NCBI36
NG_008412.1:g.12819G>A
NG_047104.1:g.18181C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.792-1G>A MANE Select	NP_002519.2:n.792-1G>A
ENST00000651570.2:c.792-1G>A MANE Select	ENSP00000498421.1:n.792-1G>A
NM_001318193.1:c.645-1G>A	NP_001305122.1:n.645-1G>A
NM_001318193.2:c.621-1G>A	NP_001305122.2:n.621-1G>A
NM_001318194.1:c.462-1G>A	NP_001305123.1:n.462-1G>A
NM_001318194.2:c.462-1G>A	NP_001305123.1:n.462-1G>A
NM_002528.5:c.816-1G>A	NP_002519.1:n.816-1G>A
NM_002528.6:c.816-1G>A	NP_002519.1:n.816-1G>A
ENST00000219066.5:c.816-1G>A	ENSP00000219066.1:n.816-1G>A
ENST00000561841.1:c.857-1G>A
ENST00000561862.5:n.337-1G>A
ENST00000562951.5:n.297-1G>A
ENST00000565406.5:n.464-1G>A
ENST00000566380.5:c.587-1G>A
ENST00000567727.5:n.344-1G>A
ENST00000568513.5:c.611-1G>A
ENST00000651522.1:c.504-1G>A	ENSP00000498290.1:n.504-1G>A
ENST00000651583.1:c.576-1G>A	ENSP00000498821.1:n.576-1G>A
XM_011522505.1:c.645-1G>A	XP_011520807.1:n.645-1G>A
XM_017023253.1:c.900G>A	XP_016878742.1:p.Gln300=