Canonical Allele Identifier: CA2201987007
Gene: NTHL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2046341C= , CM000678.2:g.2046341C= GRCh38
NC_000016.9:g.2096342C= , CM000678.1:g.2096342C= GRCh37
NC_000016.8:g.2036343C= NCBI36
NG_005895.1:g.2036C= , LRG_487:g.2036C=
NG_008412.1:g.6526G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651570.2:c.141G= MANE Select ENSP00000498421.1:p.Val47=
ENST00000651583.1:c.96G= ENSP00000498821.1:p.Val32=
ENST00000219066.5:c.165G= ENSP00000219066.1:p.Val55=
ENST00000561841.1:c.61G=
ENST00000566380.5:c.104G=
ENST00000568513.5:c.112G=
NM_002528.5:c.165G= NP_002519.1:p.Val55=
XM_011522505.1:c.165G= XP_011520807.1:p.Val55=
NM_001318193.1:c.165G= NP_001305122.1:p.Val55=
NM_001318194.1:c.-38G= NP_001305123.1:n.-38G=
NM_002528.6:c.165G= NP_002519.1:p.Val55=
XM_017023253.1:c.165G= XP_016878742.1:p.Val55=
NM_001318193.2:c.141G= NP_001305122.2:p.Val47=
NM_002528.7:c.141G= MANE Select NP_002519.2:p.Val47=
NM_001318194.2:c.-38G= NP_001305123.1:n.-38G=