Canonical Allele Identifier: CA2201986728
Gene: NTHL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2046230C= , CM000678.2:g.2046230C= GRCh38
NC_000016.9:g.2096231C= , CM000678.1:g.2096231C= GRCh37
NC_000016.8:g.2036232C= NCBI36
NG_005895.1:g.1925C= , LRG_487:g.1925C=
NG_008412.1:g.6637G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651570.2:c.252G= MANE Select ENSP00000498421.1:p.Trp84=
ENST00000651583.1:c.207G= ENSP00000498821.1:p.Trp69=
ENST00000219066.5:c.276G= ENSP00000219066.1:p.Trp92=
ENST00000561841.1:c.172G=
ENST00000566380.5:c.215G=
ENST00000568513.5:c.173+50G=
NM_002528.5:c.276G= NP_002519.1:p.Trp92=
XM_011522505.1:c.276G= XP_011520807.1:p.Trp92=
NM_001318193.1:c.276G= NP_001305122.1:p.Trp92=
NM_001318194.1:c.24+50G= NP_001305123.1:n.24+50G=
NM_002528.6:c.276G= NP_002519.1:p.Trp92=
XM_017023253.1:c.276G= XP_016878742.1:p.Trp92=
NM_001318193.2:c.252G= NP_001305122.2:p.Trp84=
NM_002528.7:c.252G= MANE Select NP_002519.2:p.Trp84=
NM_001318194.2:c.24+50G= NP_001305123.1:n.24+50G=