Canonical Allele Identifier: CA2201986657
Gene: NTHL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2046195T= , CM000678.2:g.2046195T= GRCh38
NC_000016.9:g.2096196T= , CM000678.1:g.2096196T= GRCh37
NC_000016.8:g.2036197T= NCBI36
NG_005895.1:g.1890T= , LRG_487:g.1890T=
NG_008412.1:g.6672A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651570.2:c.287A= MANE Select ENSP00000498421.1:p.Asn96=
ENST00000651583.1:c.242A= ENSP00000498821.1:p.Asn81=
ENST00000219066.5:c.311A= ENSP00000219066.1:p.Asn104=
ENST00000561841.1:c.207A=
ENST00000562120.1:n.20A=
ENST00000566380.5:c.250A=
ENST00000568513.5:c.173+85A=
NM_002528.5:c.311A= NP_002519.1:p.Asn104=
XM_011522505.1:c.311A= XP_011520807.1:p.Asn104=
NM_001318193.1:c.311A= NP_001305122.1:p.Asn104=
NM_001318194.1:c.24+85A= NP_001305123.1:n.24+85A=
NM_002528.6:c.311A= NP_002519.1:p.Asn104=
XM_017023253.1:c.311A= XP_016878742.1:p.Asn104=
NM_001318193.2:c.287A= NP_001305122.2:p.Asn96=
NM_002528.7:c.287A= MANE Select NP_002519.2:p.Asn96=
NM_001318194.2:c.24+85A= NP_001305123.1:n.24+85A=