Canonical Allele Identifier: CA394295095
Gene: NTHL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1733671

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2046141C>G , CM000678.2:g.2046141C>G GRCh38
NC_000016.9:g.2096142C>G , CM000678.1:g.2096142C>G GRCh37
NC_000016.8:g.2036143C>G NCBI36
NG_005895.1:g.1836C>G , LRG_487:g.1836C>G
NG_008412.1:g.6726G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000651522.1:c.50G>C ENSP00000498290.1:p.Ser17Thr
ENST00000651570.2:c.341G>C MANE Select ENSP00000498421.1:p.Ser114Thr
ENST00000651583.1:c.296G>C ENSP00000498821.1:p.Ser99Thr
ENST00000219066.5:c.365G>C ENSP00000219066.1:p.Ser122Thr
ENST00000561841.1:c.261G>C
ENST00000562120.1:n.74G>C
ENST00000566380.5:c.304G>C
ENST00000568513.5:c.173+139G>C
NM_002528.5:c.365G>C NP_002519.1:p.Ser122Thr
XM_011522505.1:c.365G>C XP_011520807.1:p.Ser122Thr
NM_001318193.1:c.365G>C NP_001305122.1:p.Ser122Thr
NM_001318194.1:c.24+139G>C NP_001305123.1:n.24+139G>C
NM_002528.6:c.365G>C NP_002519.1:p.Ser122Thr
XM_017023253.1:c.365G>C XP_016878742.1:p.Ser122Thr
NM_001318193.2:c.341G>C NP_001305122.2:p.Ser114Thr
NM_002528.7:c.341G>C MANE Select NP_002519.2:p.Ser114Thr
NM_001318194.2:c.24+139G>C NP_001305123.1:n.24+139G>C