Canonical Allele Identifier: CA2201986810
Gene: NTHL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2046258T= , CM000678.2:g.2046258T= GRCh38
NC_000016.9:g.2096259T= , CM000678.1:g.2096259T= GRCh37
NC_000016.8:g.2036260T= NCBI36
NG_005895.1:g.1953T= , LRG_487:g.1953T=
NG_008412.1:g.6609A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651570.2:c.224A= MANE Select ENSP00000498421.1:p.Lys75=
ENST00000651583.1:c.179A= ENSP00000498821.1:p.Lys60=
ENST00000219066.5:c.248A= ENSP00000219066.1:p.Lys83=
ENST00000561841.1:c.144A=
ENST00000566380.5:c.187A=
ENST00000568513.5:c.173+22A=
NM_002528.5:c.248A= NP_002519.1:p.Lys83=
XM_011522505.1:c.248A= XP_011520807.1:p.Lys83=
NM_001318193.1:c.248A= NP_001305122.1:p.Lys83=
NM_001318194.1:c.24+22A= NP_001305123.1:n.24+22A=
NM_002528.6:c.248A= NP_002519.1:p.Lys83=
XM_017023253.1:c.248A= XP_016878742.1:p.Lys83=
NM_001318193.2:c.224A= NP_001305122.2:p.Lys75=
NM_002528.7:c.224A= MANE Select NP_002519.2:p.Lys75=
NM_001318194.2:c.24+22A= NP_001305123.1:n.24+22A=