Canonical Allele Identifier: CA394294080

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2044634C>T , CM000678.2:g.2044634C>T	GRCh38
NC_000016.9:g.2094635C>T , CM000678.1:g.2094635C>T	GRCh37
NC_000016.8:g.2034636C>T	NCBI36
NG_005895.1:g.329C>T , LRG_487:g.329C>T
NG_008412.1:g.8233G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651522.1:c.230G>A	ENSP00000498290.1:p.Trp77Ter
ENST00000651570.2:c.521G>A MANE Select	ENSP00000498421.1:p.Trp174Ter
ENST00000651583.1:c.310-908G>A	ENSP00000498821.1:n.310-908G>A
ENST00000219066.5:c.545G>A	ENSP00000219066.1:p.Trp182Ter
ENST00000561841.1:c.441G>A
ENST00000562120.1:n.254G>A
ENST00000565406.5:n.193G>A
ENST00000566380.5:c.318-908G>A
ENST00000568513.5:c.340G>A
NM_002528.5:c.545G>A	NP_002519.1:p.Trp182Ter
XM_011522505.1:c.379-908G>A	XP_011520807.1:n.379-908G>A
NM_001318193.1:c.379-908G>A	NP_001305122.1:n.379-908G>A
NM_001318194.1:c.191G>A	NP_001305123.1:p.Trp64Ter
NM_002528.6:c.545G>A	NP_002519.1:p.Trp182Ter
XM_017023253.1:c.545G>A	XP_016878742.1:p.Trp182Ter
NM_001318193.2:c.355-908G>A	NP_001305122.2:n.355-908G>A
NM_002528.7:c.521G>A MANE Select	NP_002519.2:p.Trp174Ter
NM_001318194.2:c.191G>A	NP_001305123.1:p.Trp64Ter