Canonical Allele Identifier: CA2201986660
Gene: NTHL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2046198C= , CM000678.2:g.2046198C= GRCh38
NC_000016.9:g.2096199C= , CM000678.1:g.2096199C= GRCh37
NC_000016.8:g.2036200C= NCBI36
NG_005895.1:g.1893C= , LRG_487:g.1893C=
NG_008412.1:g.6669G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651570.2:c.284G= MANE Select ENSP00000498421.1:p.Arg95=
ENST00000651583.1:c.239G= ENSP00000498821.1:p.Arg80=
ENST00000219066.5:c.308G= ENSP00000219066.1:p.Arg103=
ENST00000561841.1:c.204G=
ENST00000562120.1:n.17G=
ENST00000566380.5:c.247G=
ENST00000568513.5:c.173+82G=
NM_002528.5:c.308G= NP_002519.1:p.Arg103=
XM_011522505.1:c.308G= XP_011520807.1:p.Arg103=
NM_001318193.1:c.308G= NP_001305122.1:p.Arg103=
NM_001318194.1:c.24+82G= NP_001305123.1:n.24+82G=
NM_002528.6:c.308G= NP_002519.1:p.Arg103=
XM_017023253.1:c.308G= XP_016878742.1:p.Arg103=
NM_001318193.2:c.284G= NP_001305122.2:p.Arg95=
NM_002528.7:c.284G= MANE Select NP_002519.2:p.Arg95=
NM_001318194.2:c.24+82G= NP_001305123.1:n.24+82G=