Canonical Allele Identifier: CA394295131
Gene: NTHL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 864092
dbSNP Id: rs1186300844
gnomAD v2: 16-2096147-G-C
gnomAD v4: 16-2046146-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2046146G>C , CM000678.2:g.2046146G>C GRCh38
NC_000016.9:g.2096147G>C , CM000678.1:g.2096147G>C GRCh37
NC_000016.8:g.2036148G>C NCBI36
NG_005895.1:g.1841G>C , LRG_487:g.1841G>C
NG_008412.1:g.6721C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000651522.1:c.45C>G ENSP00000498290.1:p.Asp15Glu
ENST00000651570.2:c.336C>G MANE Select ENSP00000498421.1:p.Asp112Glu
ENST00000651583.1:c.291C>G ENSP00000498821.1:p.Asp97Glu
ENST00000219066.5:c.360C>G ENSP00000219066.1:p.Asp120Glu
ENST00000561841.1:c.256C>G
ENST00000562120.1:n.69C>G
ENST00000566380.5:c.299C>G
ENST00000568513.5:c.173+134C>G
NM_002528.5:c.360C>G NP_002519.1:p.Asp120Glu
XM_011522505.1:c.360C>G XP_011520807.1:p.Asp120Glu
NM_001318193.1:c.360C>G NP_001305122.1:p.Asp120Glu
NM_001318194.1:c.24+134C>G NP_001305123.1:n.24+134C>G
NM_002528.6:c.360C>G NP_002519.1:p.Asp120Glu
XM_017023253.1:c.360C>G XP_016878742.1:p.Asp120Glu
NM_001318193.2:c.336C>G NP_001305122.2:p.Asp112Glu
NM_002528.7:c.336C>G MANE Select NP_002519.2:p.Asp112Glu
NM_001318194.2:c.24+134C>G NP_001305123.1:n.24+134C>G