Canonical Allele Identifier: CA2201986715
Gene: NTHL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2046225T= , CM000678.2:g.2046225T= GRCh38
NC_000016.9:g.2096226T= , CM000678.1:g.2096226T= GRCh37
NC_000016.8:g.2036227T= NCBI36
NG_005895.1:g.1920T= , LRG_487:g.1920T=
NG_008412.1:g.6642A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651570.2:c.257A= MANE Select ENSP00000498421.1:p.Gln86=
ENST00000651583.1:c.212A= ENSP00000498821.1:p.Gln71=
ENST00000219066.5:c.281A= ENSP00000219066.1:p.Gln94=
ENST00000561841.1:c.177A=
ENST00000566380.5:c.220A=
ENST00000568513.5:c.173+55A=
NM_002528.5:c.281A= NP_002519.1:p.Gln94=
XM_011522505.1:c.281A= XP_011520807.1:p.Gln94=
NM_001318193.1:c.281A= NP_001305122.1:p.Gln94=
NM_001318194.1:c.24+55A= NP_001305123.1:n.24+55A=
NM_002528.6:c.281A= NP_002519.1:p.Gln94=
XM_017023253.1:c.281A= XP_016878742.1:p.Gln94=
NM_001318193.2:c.257A= NP_001305122.2:p.Gln86=
NM_002528.7:c.257A= MANE Select NP_002519.2:p.Gln86=
NM_001318194.2:c.24+55A= NP_001305123.1:n.24+55A=