Canonical Allele Identifier: CA2201986668
Gene: NTHL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2046202T= , CM000678.2:g.2046202T= GRCh38
NC_000016.9:g.2096203T= , CM000678.1:g.2096203T= GRCh37
NC_000016.8:g.2036204T= NCBI36
NG_005895.1:g.1897T= , LRG_487:g.1897T=
NG_008412.1:g.6665A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651570.2:c.280A= MANE Select ENSP00000498421.1:p.Met94=
ENST00000651583.1:c.235A= ENSP00000498821.1:p.Met79=
ENST00000219066.5:c.304A= ENSP00000219066.1:p.Met102=
ENST00000561841.1:c.200A=
ENST00000562120.1:n.13A=
ENST00000566380.5:c.243A=
ENST00000568513.5:c.173+78A=
NM_002528.5:c.304A= NP_002519.1:p.Met102=
XM_011522505.1:c.304A= XP_011520807.1:p.Met102=
NM_001318193.1:c.304A= NP_001305122.1:p.Met102=
NM_001318194.1:c.24+78A= NP_001305123.1:n.24+78A=
NM_002528.6:c.304A= NP_002519.1:p.Met102=
XM_017023253.1:c.304A= XP_016878742.1:p.Met102=
NM_001318193.2:c.280A= NP_001305122.2:p.Met94=
NM_002528.7:c.280A= MANE Select NP_002519.2:p.Met94=
NM_001318194.2:c.24+78A= NP_001305123.1:n.24+78A=