Canonical Allele Identifier: CA7828120

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2040155C>T , CM000678.2:g.2040155C>T	GRCh38
NC_000016.9:g.2090156C>T , CM000678.1:g.2090156C>T	GRCh37
NC_000016.8:g.2030157C>T	NCBI36
NG_008412.1:g.12712G>A
NG_047104.1:g.18288C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.769G>A MANE Select	NP_002519.2:p.Ala257Thr
ENST00000651570.2:c.769G>A MANE Select	ENSP00000498421.1:p.Ala257Thr
NM_001318193.1:c.622G>A	NP_001305122.1:p.Ala208Thr
NM_001318193.2:c.598G>A	NP_001305122.2:p.Ala200Thr
NM_001318194.1:c.439G>A	NP_001305123.1:p.Ala147Thr
NM_001318194.2:c.439G>A	NP_001305123.1:p.Ala147Thr
NM_002528.5:c.793G>A	NP_002519.1:p.Ala265Thr
NM_002528.6:c.793G>A	NP_002519.1:p.Ala265Thr
ENST00000219066.5:c.793G>A	ENSP00000219066.1:p.Ala265Thr
ENST00000561841.1:c.834G>A
ENST00000561862.5:n.314G>A
ENST00000562951.5:n.274G>A
ENST00000565406.5:n.441G>A
ENST00000566380.5:c.564G>A
ENST00000567727.5:n.321G>A
ENST00000568513.5:c.588G>A
ENST00000651522.1:c.481G>A	ENSP00000498290.1:p.Ala161Thr
ENST00000651583.1:c.553G>A	ENSP00000498821.1:p.Ala185Thr
XM_011522505.1:c.622G>A	XP_011520807.1:p.Ala208Thr
XM_017023253.1:c.793G>A	XP_016878742.1:p.Ala265Thr