Canonical Allele Identifier: CA7828351

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046312C>A , CM000678.2:g.2046312C>A	GRCh38
NC_000016.9:g.2096313C>A , CM000678.1:g.2096313C>A	GRCh37
NC_000016.8:g.2036314C>A	NCBI36
NG_005895.1:g.2007C>A , LRG_487:g.2007C>A
NG_008412.1:g.6555G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.170G>T MANE Select	NP_002519.2:p.Arg57Leu
ENST00000651570.2:c.170G>T MANE Select	ENSP00000498421.1:p.Arg57Leu
NM_001318193.1:c.194G>T	NP_001305122.1:p.Arg65Leu
NM_001318193.2:c.170G>T	NP_001305122.2:p.Arg57Leu
NM_001318194.1:c.-9G>T	NP_001305123.1:n.-9G>T
NM_001318194.2:c.-9G>T	NP_001305123.1:n.-9G>T
NM_002528.5:c.194G>T	NP_002519.1:p.Arg65Leu
NM_002528.6:c.194G>T	NP_002519.1:p.Arg65Leu
ENST00000219066.5:c.194G>T	ENSP00000219066.1:p.Arg65Leu
ENST00000561841.1:c.90G>T
ENST00000566380.5:c.133G>T
ENST00000568513.5:c.141G>T
ENST00000651583.1:c.125G>T	ENSP00000498821.1:p.Arg42Leu
XM_011522505.1:c.194G>T	XP_011520807.1:p.Arg65Leu
XM_017023253.1:c.194G>T	XP_016878742.1:p.Arg65Leu