Canonical Allele Identifier: CA2201987012
Gene: NTHL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2046343C= , CM000678.2:g.2046343C= GRCh38
NC_000016.9:g.2096344C= , CM000678.1:g.2096344C= GRCh37
NC_000016.8:g.2036345C= NCBI36
NG_005895.1:g.2038C= , LRG_487:g.2038C=
NG_008412.1:g.6524G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651570.2:c.139G= MANE Select ENSP00000498421.1:p.Val47=
ENST00000651583.1:c.94G= ENSP00000498821.1:p.Val32=
ENST00000219066.5:c.163G= ENSP00000219066.1:p.Val55=
ENST00000561841.1:c.59G=
ENST00000566380.5:c.102G=
ENST00000568513.5:c.110G=
NM_002528.5:c.163G= NP_002519.1:p.Val55=
XM_011522505.1:c.163G= XP_011520807.1:p.Val55=
NM_001318193.1:c.163G= NP_001305122.1:p.Val55=
NM_001318194.1:c.-40G= NP_001305123.1:n.-40G=
NM_002528.6:c.163G= NP_002519.1:p.Val55=
XM_017023253.1:c.163G= XP_016878742.1:p.Val55=
NM_001318193.2:c.139G= NP_001305122.2:p.Val47=
NM_002528.7:c.139G= MANE Select NP_002519.2:p.Val47=
NM_001318194.2:c.-40G= NP_001305123.1:n.-40G=