Canonical Allele Identifier: CA7828348

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046306G>A , CM000678.2:g.2046306G>A	GRCh38
NC_000016.9:g.2096307G>A , CM000678.1:g.2096307G>A	GRCh37
NC_000016.8:g.2036308G>A	NCBI36
NG_005895.1:g.2001G>A , LRG_487:g.2001G>A
NG_008412.1:g.6561C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.176C>T MANE Select	NP_002519.2:p.Ala59Val
ENST00000651570.2:c.176C>T MANE Select	ENSP00000498421.1:p.Ala59Val
NM_001318193.1:c.200C>T	NP_001305122.1:p.Ala67Val
NM_001318193.2:c.176C>T	NP_001305122.2:p.Ala59Val
NM_001318194.1:c.-3C>T	NP_001305123.1:n.-3C>T
NM_001318194.2:c.-3C>T	NP_001305123.1:n.-3C>T
NM_002528.5:c.200C>T	NP_002519.1:p.Ala67Val
NM_002528.6:c.200C>T	NP_002519.1:p.Ala67Val
ENST00000219066.5:c.200C>T	ENSP00000219066.1:p.Ala67Val
ENST00000561841.1:c.96C>T
ENST00000566380.5:c.139C>T
ENST00000568513.5:c.147C>T
ENST00000651583.1:c.131C>T	ENSP00000498821.1:p.Ala44Val
XM_011522505.1:c.200C>T	XP_011520807.1:p.Ala67Val
XM_017023253.1:c.200C>T	XP_016878742.1:p.Ala67Val