Canonical Allele Identifier: CA276760101

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2039932C>G , CM000678.2:g.2039932C>G	GRCh38
NC_000016.9:g.2089933C>G , CM000678.1:g.2089933C>G	GRCh37
NC_000016.8:g.2029934C>G	NCBI36
NG_008412.1:g.12935G>C
NG_047104.1:g.18065C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.907G>C MANE Select	NP_002519.2:p.Gly303Arg
ENST00000651570.2:c.907G>C MANE Select	ENSP00000498421.1:p.Gly303Arg
NM_001318193.1:c.760G>C	NP_001305122.1:p.Gly254Arg
NM_001318193.2:c.736G>C	NP_001305122.2:p.Gly246Arg
NM_001318194.1:c.577G>C	NP_001305123.1:p.Gly193Arg
NM_001318194.2:c.577G>C	NP_001305123.1:p.Gly193Arg
NM_002528.5:c.931G>C	NP_002519.1:p.Gly311Arg
NM_002528.6:c.931G>C	NP_002519.1:p.Gly311Arg
ENST00000219066.5:c.931G>C	ENSP00000219066.1:p.Gly311Arg
ENST00000561841.1:c.972G>C
ENST00000561862.5:n.452G>C
ENST00000562951.5:n.412G>C
ENST00000565406.5:n.579G>C
ENST00000566380.5:c.702G>C
ENST00000567727.5:n.459G>C
ENST00000568513.5:c.726G>C
ENST00000651522.1:c.619G>C	ENSP00000498290.1:p.Gly207Arg
ENST00000651583.1:c.691G>C	ENSP00000498821.1:p.Gly231Arg
XM_011522505.1:c.760G>C	XP_011520807.1:p.Gly254Arg
XM_017023253.1:c.1016G>C	XP_016878742.1:p.Gly339Ala