Canonical Allele Identifier: CA7828142

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2040245G>C , CM000678.2:g.2040245G>C	GRCh38
NC_000016.9:g.2090246G>C , CM000678.1:g.2090246G>C	GRCh37
NC_000016.8:g.2030247G>C	NCBI36
NG_008412.1:g.12622C>G
NG_047104.1:g.18378G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.686-7C>G MANE Select	NP_002519.2:n.686-7C>G
ENST00000651570.2:c.686-7C>G MANE Select	ENSP00000498421.1:n.686-7C>G
NM_001318193.1:c.539-7C>G	NP_001305122.1:n.539-7C>G
NM_001318193.2:c.515-7C>G	NP_001305122.2:n.515-7C>G
NM_001318194.1:c.356-7C>G	NP_001305123.1:n.356-7C>G
NM_001318194.2:c.356-7C>G	NP_001305123.1:n.356-7C>G
NM_002528.5:c.710-7C>G	NP_002519.1:n.710-7C>G
NM_002528.6:c.710-7C>G	NP_002519.1:n.710-7C>G
ENST00000219066.5:c.710-7C>G	ENSP00000219066.1:n.710-7C>G
ENST00000561841.1:c.751-7C>G
ENST00000561862.5:n.224C>G
ENST00000562951.5:n.191-7C>G
ENST00000565406.5:n.358-7C>G
ENST00000566380.5:c.478-4C>G
ENST00000567727.5:n.238-7C>G
ENST00000568513.5:c.505-7C>G
ENST00000651522.1:c.395-4C>G	ENSP00000498290.1:n.395-4C>G
ENST00000651583.1:c.470-7C>G	ENSP00000498821.1:n.470-7C>G
XM_011522505.1:c.539-7C>G	XP_011520807.1:n.539-7C>G
XM_017023253.1:c.710-7C>G	XP_016878742.1:n.710-7C>G