Canonical Allele Identifier: CA7828273

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2044775G>A , CM000678.2:g.2044775G>A	GRCh38
NC_000016.9:g.2094776G>A , CM000678.1:g.2094776G>A	GRCh37
NC_000016.8:g.2034777G>A	NCBI36
NG_005895.1:g.470G>A , LRG_487:g.470G>A
NG_008412.1:g.8092C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.380C>T MANE Select	NP_002519.2:p.Ser127Leu
ENST00000651570.2:c.380C>T MANE Select	ENSP00000498421.1:p.Ser127Leu
NM_001318193.1:c.379-1049C>T	NP_001305122.1:n.379-1049C>T
NM_001318193.2:c.355-1049C>T	NP_001305122.2:n.355-1049C>T
NM_001318194.1:c.50C>T	NP_001305123.1:p.Ser17Leu
NM_001318194.2:c.50C>T	NP_001305123.1:p.Ser17Leu
NM_002528.5:c.404C>T	NP_002519.1:p.Ser135Leu
NM_002528.6:c.404C>T	NP_002519.1:p.Ser135Leu
ENST00000219066.5:c.404C>T	ENSP00000219066.1:p.Ser135Leu
ENST00000561841.1:c.300C>T
ENST00000562120.1:n.113C>T
ENST00000565406.5:n.52C>T
ENST00000566380.5:c.318-1049C>T
ENST00000568513.5:c.199C>T
ENST00000651522.1:c.89C>T	ENSP00000498290.1:p.Ser30Leu
ENST00000651583.1:c.310-1049C>T	ENSP00000498821.1:n.310-1049C>T
XM_011522505.1:c.379-1049C>T	XP_011520807.1:n.379-1049C>T
XM_017023253.1:c.404C>T	XP_016878742.1:p.Ser135Leu