Canonical Allele Identifier: CA7828199

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2043675C>T , CM000678.2:g.2043675C>T	GRCh38
NC_000016.9:g.2093676C>T , CM000678.1:g.2093676C>T	GRCh37
NC_000016.8:g.2033677C>T	NCBI36
NG_008412.1:g.9192G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.577G>A MANE Select	NP_002519.2:p.Gly193Ser
ENST00000651570.2:c.577G>A MANE Select	ENSP00000498421.1:p.Gly193Ser
NM_001318193.1:c.430G>A	NP_001305122.1:p.Gly144Ser
NM_001318193.2:c.406G>A	NP_001305122.2:p.Gly136Ser
NM_001318194.1:c.247G>A	NP_001305123.1:p.Gly83Ser
NM_001318194.2:c.247G>A	NP_001305123.1:p.Gly83Ser
NM_002528.5:c.601G>A	NP_002519.1:p.Gly201Ser
NM_002528.6:c.601G>A	NP_002519.1:p.Gly201Ser
ENST00000219066.5:c.601G>A	ENSP00000219066.1:p.Gly201Ser
ENST00000561841.1:c.497G>A
ENST00000562120.1:n.310G>A
ENST00000562951.5:n.82G>A
ENST00000565406.5:n.249G>A
ENST00000566380.5:c.369G>A
ENST00000567727.5:n.129G>A
ENST00000568513.5:c.396G>A
ENST00000651522.1:c.286G>A	ENSP00000498290.1:p.Gly96Ser
ENST00000651583.1:c.361G>A	ENSP00000498821.1:p.Gly121Ser
XM_011522505.1:c.430G>A	XP_011520807.1:p.Gly144Ser
XM_017023253.1:c.601G>A	XP_016878742.1:p.Gly201Ser