Canonical Allele Identifier: CA2201986888
Gene: NTHL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2046295A= , CM000678.2:g.2046295A= GRCh38
NC_000016.9:g.2096296A= , CM000678.1:g.2096296A= GRCh37
NC_000016.8:g.2036297A= NCBI36
NG_005895.1:g.1990A= , LRG_487:g.1990A=
NG_008412.1:g.6572T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651570.2:c.187T= MANE Select ENSP00000498421.1:p.Ser63=
ENST00000651583.1:c.142T= ENSP00000498821.1:p.Ser48=
ENST00000219066.5:c.211T= ENSP00000219066.1:p.Ser71=
ENST00000561841.1:c.107T=
ENST00000566380.5:c.150T=
ENST00000568513.5:c.158T=
NM_002528.5:c.211T= NP_002519.1:p.Ser71=
XM_011522505.1:c.211T= XP_011520807.1:p.Ser71=
NM_001318193.1:c.211T= NP_001305122.1:p.Ser71=
NM_001318194.1:c.9T= NP_001305123.1:p.Ala3=
NM_002528.6:c.211T= NP_002519.1:p.Ser71=
XM_017023253.1:c.211T= XP_016878742.1:p.Ser71=
NM_001318193.2:c.187T= NP_001305122.2:p.Ser63=
NM_002528.7:c.187T= MANE Select NP_002519.2:p.Ser63=
NM_001318194.2:c.9T= NP_001305123.1:p.Ala3=