Canonical Allele Identifier: CA7828323
Gene: NTHL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1715009
dbSNP Id: rs768318722
gnomAD v2: 16-2096160-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2046159T>C , CM000678.2:g.2046159T>C GRCh38
NC_000016.9:g.2096160T>C , CM000678.1:g.2096160T>C GRCh37
NC_000016.8:g.2036161T>C NCBI36
NG_005895.1:g.1854T>C , LRG_487:g.1854T>C
NG_008412.1:g.6708A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000651522.1:c.32A>G ENSP00000498290.1:p.Glu11Gly
ENST00000651570.2:c.323A>G MANE Select ENSP00000498421.1:p.Glu108Gly
ENST00000651583.1:c.278A>G ENSP00000498821.1:p.Glu93Gly
ENST00000219066.5:c.347A>G ENSP00000219066.1:p.Glu116Gly
ENST00000561841.1:c.243A>G
ENST00000562120.1:n.56A>G
ENST00000566380.5:c.286A>G
ENST00000568513.5:c.173+121A>G
NM_002528.5:c.347A>G NP_002519.1:p.Glu116Gly
XM_011522505.1:c.347A>G XP_011520807.1:p.Glu116Gly
NM_001318193.1:c.347A>G NP_001305122.1:p.Glu116Gly
NM_001318194.1:c.24+121A>G NP_001305123.1:n.24+121A>G
NM_002528.6:c.347A>G NP_002519.1:p.Glu116Gly
XM_017023253.1:c.347A>G XP_016878742.1:p.Glu116Gly
NM_001318193.2:c.323A>G NP_001305122.2:p.Glu108Gly
NM_002528.7:c.323A>G MANE Select NP_002519.2:p.Glu108Gly
NM_001318194.2:c.24+121A>G NP_001305123.1:n.24+121A>G