Canonical Allele Identifier: CA7828072

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2039962G>C , CM000678.2:g.2039962G>C	GRCh38
NC_000016.9:g.2089963G>C , CM000678.1:g.2089963G>C	GRCh37
NC_000016.8:g.2029964G>C	NCBI36
NG_008412.1:g.12905C>G
NG_047104.1:g.18095G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.877C>G MANE Select	NP_002519.2:p.Leu293Val
ENST00000651570.2:c.877C>G MANE Select	ENSP00000498421.1:p.Leu293Val
NM_001318193.1:c.730C>G	NP_001305122.1:p.Leu244Val
NM_001318193.2:c.706C>G	NP_001305122.2:p.Leu236Val
NM_001318194.1:c.547C>G	NP_001305123.1:p.Leu183Val
NM_001318194.2:c.547C>G	NP_001305123.1:p.Leu183Val
NM_002528.5:c.901C>G	NP_002519.1:p.Leu301Val
NM_002528.6:c.901C>G	NP_002519.1:p.Leu301Val
ENST00000219066.5:c.901C>G	ENSP00000219066.1:p.Leu301Val
ENST00000561841.1:c.942C>G
ENST00000561862.5:n.422C>G
ENST00000562951.5:n.382C>G
ENST00000565406.5:n.549C>G
ENST00000566380.5:c.672C>G
ENST00000567727.5:n.429C>G
ENST00000568513.5:c.696C>G
ENST00000651522.1:c.589C>G	ENSP00000498290.1:p.Leu197Val
ENST00000651583.1:c.661C>G	ENSP00000498821.1:p.Leu221Val
XM_011522505.1:c.730C>G	XP_011520807.1:p.Leu244Val
XM_017023253.1:c.986C>G	XP_016878742.1:p.Pro329Arg