Canonical Allele Identifier: CA2201987024
Gene: NTHL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2046352G= , CM000678.2:g.2046352G= GRCh38
NC_000016.9:g.2096353G= , CM000678.1:g.2096353G= GRCh37
NC_000016.8:g.2036354G= NCBI36
NG_005895.1:g.2047G= , LRG_487:g.2047G=
NG_008412.1:g.6515C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651570.2:c.130C= MANE Select ENSP00000498421.1:p.His44=
ENST00000651583.1:c.85C= ENSP00000498821.1:p.His29=
ENST00000219066.5:c.154C= ENSP00000219066.1:p.His52=
ENST00000561841.1:c.50C=
ENST00000566380.5:c.93C=
ENST00000568513.5:c.101C=
NM_002528.5:c.154C= NP_002519.1:p.His52=
XM_011522505.1:c.154C= XP_011520807.1:p.His52=
NM_001318193.1:c.154C= NP_001305122.1:p.His52=
NM_001318194.1:c.-49C= NP_001305123.1:n.-49C=
NM_002528.6:c.154C= NP_002519.1:p.His52=
XM_017023253.1:c.154C= XP_016878742.1:p.His52=
NM_001318193.2:c.130C= NP_001305122.2:p.His44=
NM_002528.7:c.130C= MANE Select NP_002519.2:p.His44=
NM_001318194.2:c.-49C= NP_001305123.1:n.-49C=