Canonical Allele Identifier: CA394294327

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2044715C>T , CM000678.2:g.2044715C>T	GRCh38
NC_000016.9:g.2094716C>T , CM000678.1:g.2094716C>T	GRCh37
NC_000016.8:g.2034717C>T	NCBI36
NG_005895.1:g.410C>T , LRG_487:g.410C>T
NG_008412.1:g.8152G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.440G>A MANE Select	NP_002519.2:p.Arg147Gln
ENST00000651570.2:c.440G>A MANE Select	ENSP00000498421.1:p.Arg147Gln
NM_001318193.1:c.379-989G>A	NP_001305122.1:n.379-989G>A
NM_001318193.2:c.355-989G>A	NP_001305122.2:n.355-989G>A
NM_001318194.1:c.110G>A	NP_001305123.1:p.Arg37Gln
NM_001318194.2:c.110G>A	NP_001305123.1:p.Arg37Gln
NM_002528.5:c.464G>A	NP_002519.1:p.Arg155Gln
NM_002528.6:c.464G>A	NP_002519.1:p.Arg155Gln
ENST00000219066.5:c.464G>A	ENSP00000219066.1:p.Arg155Gln
ENST00000561841.1:c.360G>A
ENST00000562120.1:n.173G>A
ENST00000565406.5:n.112G>A
ENST00000566380.5:c.318-989G>A
ENST00000568513.5:c.259G>A
ENST00000651522.1:c.149G>A	ENSP00000498290.1:p.Arg50Gln
ENST00000651583.1:c.310-989G>A	ENSP00000498821.1:n.310-989G>A
XM_011522505.1:c.379-989G>A	XP_011520807.1:n.379-989G>A
XM_017023253.1:c.464G>A	XP_016878742.1:p.Arg155Gln