Canonical Allele Identifier: CA492953016

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2044782G>A , CM000678.2:g.2044782G>A	GRCh38
NC_000016.9:g.2094783G>A , CM000678.1:g.2094783G>A	GRCh37
NC_000016.8:g.2034784G>A	NCBI36
NG_005895.1:g.477G>A , LRG_487:g.477G>A
NG_008412.1:g.8085C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.373C>T MANE Select	NP_002519.2:p.Leu125=
ENST00000651570.2:c.373C>T MANE Select	ENSP00000498421.1:p.Leu125=
NM_001318193.1:c.379-1056C>T	NP_001305122.1:n.379-1056C>T
NM_001318193.2:c.355-1056C>T	NP_001305122.2:n.355-1056C>T
NM_001318194.1:c.43C>T	NP_001305123.1:p.Leu15=
NM_001318194.2:c.43C>T	NP_001305123.1:p.Leu15=
NM_002528.5:c.397C>T	NP_002519.1:p.Leu133=
NM_002528.6:c.397C>T	NP_002519.1:p.Leu133=
ENST00000219066.5:c.397C>T	ENSP00000219066.1:p.Leu133=
ENST00000561841.1:c.293C>T
ENST00000562120.1:n.106C>T
ENST00000565406.5:n.45C>T
ENST00000566380.5:c.318-1056C>T
ENST00000568513.5:c.192C>T
ENST00000651522.1:c.82C>T	ENSP00000498290.1:p.Leu28=
ENST00000651583.1:c.310-1056C>T	ENSP00000498821.1:n.310-1056C>T
XM_011522505.1:c.379-1056C>T	XP_011520807.1:n.379-1056C>T
XM_017023253.1:c.397C>T	XP_016878742.1:p.Leu133=