Canonical Allele Identifier: CA7828355

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046331G>A , CM000678.2:g.2046331G>A	GRCh38
NC_000016.9:g.2096332G>A , CM000678.1:g.2096332G>A	GRCh37
NC_000016.8:g.2036333G>A	NCBI36
NG_005895.1:g.2026G>A , LRG_487:g.2026G>A
NG_008412.1:g.6536C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.151C>T MANE Select	NP_002519.2:p.Arg51Trp
ENST00000651570.2:c.151C>T MANE Select	ENSP00000498421.1:p.Arg51Trp
NM_001318193.1:c.175C>T	NP_001305122.1:p.Arg59Trp
NM_001318193.2:c.151C>T	NP_001305122.2:p.Arg51Trp
NM_001318194.1:c.-28C>T	NP_001305123.1:n.-28C>T
NM_001318194.2:c.-28C>T	NP_001305123.1:n.-28C>T
NM_002528.5:c.175C>T	NP_002519.1:p.Arg59Trp
NM_002528.6:c.175C>T	NP_002519.1:p.Arg59Trp
ENST00000219066.5:c.175C>T	ENSP00000219066.1:p.Arg59Trp
ENST00000561841.1:c.71C>T
ENST00000566380.5:c.114C>T
ENST00000568513.5:c.122C>T
ENST00000651583.1:c.106C>T	ENSP00000498821.1:p.Arg36Trp
XM_011522505.1:c.175C>T	XP_011520807.1:p.Arg59Trp
XM_017023253.1:c.175C>T	XP_016878742.1:p.Arg59Trp