Canonical Allele Identifier: CA2201986687
Gene: NTHL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2046213T= , CM000678.2:g.2046213T= GRCh38
NC_000016.9:g.2096214T= , CM000678.1:g.2096214T= GRCh37
NC_000016.8:g.2036215T= NCBI36
NG_005895.1:g.1908T= , LRG_487:g.1908T=
NG_008412.1:g.6654A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651570.2:c.269A= MANE Select ENSP00000498421.1:p.Asn90=
ENST00000651583.1:c.224A= ENSP00000498821.1:p.Asn75=
ENST00000219066.5:c.293A= ENSP00000219066.1:p.Asn98=
ENST00000561841.1:c.189A=
ENST00000562120.1:n.2A=
ENST00000566380.5:c.232A=
ENST00000568513.5:c.173+67A=
NM_002528.5:c.293A= NP_002519.1:p.Asn98=
XM_011522505.1:c.293A= XP_011520807.1:p.Asn98=
NM_001318193.1:c.293A= NP_001305122.1:p.Asn98=
NM_001318194.1:c.24+67A= NP_001305123.1:n.24+67A=
NM_002528.6:c.293A= NP_002519.1:p.Asn98=
XM_017023253.1:c.293A= XP_016878742.1:p.Asn98=
NM_001318193.2:c.269A= NP_001305122.2:p.Asn90=
NM_002528.7:c.269A= MANE Select NP_002519.2:p.Asn90=
NM_001318194.2:c.24+67A= NP_001305123.1:n.24+67A=