Canonical Allele Identifier: CA394295105
Gene: NTHL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2046144G>A , CM000678.2:g.2046144G>A GRCh38
NC_000016.9:g.2096145G>A , CM000678.1:g.2096145G>A GRCh37
NC_000016.8:g.2036146G>A NCBI36
NG_005895.1:g.1839G>A , LRG_487:g.1839G>A
NG_008412.1:g.6723C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000651522.1:c.47C>T ENSP00000498290.1:p.Ser16Phe
ENST00000651570.2:c.338C>T MANE Select ENSP00000498421.1:p.Ser113Phe
ENST00000651583.1:c.293C>T ENSP00000498821.1:p.Ser98Phe
ENST00000219066.5:c.362C>T ENSP00000219066.1:p.Ser121Phe
ENST00000561841.1:c.258C>T
ENST00000562120.1:n.71C>T
ENST00000566380.5:c.301C>T
ENST00000568513.5:c.173+136C>T
NM_002528.5:c.362C>T NP_002519.1:p.Ser121Phe
XM_011522505.1:c.362C>T XP_011520807.1:p.Ser121Phe
NM_001318193.1:c.362C>T NP_001305122.1:p.Ser121Phe
NM_001318194.1:c.24+136C>T NP_001305123.1:n.24+136C>T
NM_002528.6:c.362C>T NP_002519.1:p.Ser121Phe
XM_017023253.1:c.362C>T XP_016878742.1:p.Ser121Phe
NM_001318193.2:c.338C>T NP_001305122.2:p.Ser113Phe
NM_002528.7:c.338C>T MANE Select NP_002519.2:p.Ser113Phe
NM_001318194.2:c.24+136C>T NP_001305123.1:n.24+136C>T