Canonical Allele Identifier: CA7828089

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2040027T>C , CM000678.2:g.2040027T>C	GRCh38
NC_000016.9:g.2090028T>C , CM000678.1:g.2090028T>C	GRCh37
NC_000016.8:g.2030029T>C	NCBI36
NG_008412.1:g.12840A>G
NG_047104.1:g.18160T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.812A>G MANE Select	NP_002519.2:p.Asn271Ser
ENST00000651570.2:c.812A>G MANE Select	ENSP00000498421.1:p.Asn271Ser
NM_001318193.1:c.665A>G	NP_001305122.1:p.Asn222Ser
NM_001318193.2:c.641A>G	NP_001305122.2:p.Asn214Ser
NM_001318194.1:c.482A>G	NP_001305123.1:p.Asn161Ser
NM_001318194.2:c.482A>G	NP_001305123.1:p.Asn161Ser
NM_002528.5:c.836A>G	NP_002519.1:p.Asn279Ser
NM_002528.6:c.836A>G	NP_002519.1:p.Asn279Ser
ENST00000219066.5:c.836A>G	ENSP00000219066.1:p.Asn279Ser
ENST00000561841.1:c.877A>G
ENST00000561862.5:n.357A>G
ENST00000562951.5:n.317A>G
ENST00000565406.5:n.484A>G
ENST00000566380.5:c.607A>G
ENST00000567727.5:n.364A>G
ENST00000568513.5:c.631A>G
ENST00000651522.1:c.524A>G	ENSP00000498290.1:p.Asn175Ser
ENST00000651583.1:c.596A>G	ENSP00000498821.1:p.Asn199Ser
XM_011522505.1:c.665A>G	XP_011520807.1:p.Asn222Ser
XM_017023253.1:c.921A>G	XP_016878742.1:p.Gln307=