Canonical Allele Identifier: CA2201986616
Gene: NTHL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2046170A= , CM000678.2:g.2046170A= GRCh38
NC_000016.9:g.2096171A= , CM000678.1:g.2096171A= GRCh37
NC_000016.8:g.2036172A= NCBI36
NG_005895.1:g.1865A= , LRG_487:g.1865A=
NG_008412.1:g.6697T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651522.1:c.21T= ENSP00000498290.1:p.His7=
ENST00000651570.2:c.312T= MANE Select ENSP00000498421.1:p.His104=
ENST00000651583.1:c.267T= ENSP00000498821.1:p.His89=
ENST00000219066.5:c.336T= ENSP00000219066.1:p.His112=
ENST00000561841.1:c.232T=
ENST00000562120.1:n.45T=
ENST00000566380.5:c.275T=
ENST00000568513.5:c.173+110T=
NM_002528.5:c.336T= NP_002519.1:p.His112=
XM_011522505.1:c.336T= XP_011520807.1:p.His112=
NM_001318193.1:c.336T= NP_001305122.1:p.His112=
NM_001318194.1:c.24+110T= NP_001305123.1:n.24+110T=
NM_002528.6:c.336T= NP_002519.1:p.His112=
XM_017023253.1:c.336T= XP_016878742.1:p.His112=
NM_001318193.2:c.312T= NP_001305122.2:p.His104=
NM_002528.7:c.312T= MANE Select NP_002519.2:p.His104=
NM_001318194.2:c.24+110T= NP_001305123.1:n.24+110T=