Canonical Allele Identifier: CA394292140

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2043687G>A , CM000678.2:g.2043687G>A	GRCh38
NC_000016.9:g.2093688G>A , CM000678.1:g.2093688G>A	GRCh37
NC_000016.8:g.2033689G>A	NCBI36
NG_008412.1:g.9180C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.565C>T MANE Select	NP_002519.2:p.Gln189Ter
ENST00000651570.2:c.565C>T MANE Select	ENSP00000498421.1:p.Gln189Ter
NM_001318193.1:c.418C>T	NP_001305122.1:p.Gln140Ter
NM_001318193.2:c.394C>T	NP_001305122.2:p.Gln132Ter
NM_001318194.1:c.235C>T	NP_001305123.1:p.Gln79Ter
NM_001318194.2:c.235C>T	NP_001305123.1:p.Gln79Ter
NM_002528.5:c.589C>T	NP_002519.1:p.Gln197Ter
NM_002528.6:c.589C>T	NP_002519.1:p.Gln197Ter
ENST00000219066.5:c.589C>T	ENSP00000219066.1:p.Gln197Ter
ENST00000561841.1:c.485C>T
ENST00000562120.1:n.298C>T
ENST00000562951.5:n.70C>T
ENST00000565406.5:n.237C>T
ENST00000566380.5:c.357C>T
ENST00000567727.5:n.117C>T
ENST00000568513.5:c.384C>T
ENST00000651522.1:c.274C>T	ENSP00000498290.1:p.Gln92Ter
ENST00000651583.1:c.349C>T	ENSP00000498821.1:p.Gln117Ter
XM_011522505.1:c.418C>T	XP_011520807.1:p.Gln140Ter
XM_017023253.1:c.589C>T	XP_016878742.1:p.Gln197Ter