Canonical Allele Identifier: CA7828239

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2044652A>G , CM000678.2:g.2044652A>G	GRCh38
NC_000016.9:g.2094653A>G , CM000678.1:g.2094653A>G	GRCh37
NC_000016.8:g.2034654A>G	NCBI36
NG_005895.1:g.347A>G , LRG_487:g.347A>G
NG_008412.1:g.8215T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651522.1:c.212T>C	ENSP00000498290.1:p.Ile71Thr
ENST00000651570.2:c.503T>C MANE Select	ENSP00000498421.1:p.Ile168Thr
ENST00000651583.1:c.310-926T>C	ENSP00000498821.1:n.310-926T>C
ENST00000219066.5:c.527T>C	ENSP00000219066.1:p.Ile176Thr
ENST00000561841.1:c.423T>C
ENST00000562120.1:n.236T>C
ENST00000565406.5:n.175T>C
ENST00000566380.5:c.318-926T>C
ENST00000568513.5:c.322T>C
NM_002528.5:c.527T>C	NP_002519.1:p.Ile176Thr
XM_011522505.1:c.379-926T>C	XP_011520807.1:n.379-926T>C
NM_001318193.1:c.379-926T>C	NP_001305122.1:n.379-926T>C
NM_001318194.1:c.173T>C	NP_001305123.1:p.Ile58Thr
NM_002528.6:c.527T>C	NP_002519.1:p.Ile176Thr
XM_017023253.1:c.527T>C	XP_016878742.1:p.Ile176Thr
NM_001318193.2:c.355-926T>C	NP_001305122.2:n.355-926T>C
NM_002528.7:c.503T>C MANE Select	NP_002519.2:p.Ile168Thr
NM_001318194.2:c.173T>C	NP_001305123.1:p.Ile58Thr