Canonical Allele Identifier: CA200196
Gene: NTHL1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 192319
dbSNP Id: rs150766139

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2046238G>A , CM000678.2:g.2046238G>A GRCh38
NC_000016.8:g.2036240G>A NCBI36
NC_000016.9:g.2096239G>A , CM000678.1:g.2096239G>A GRCh37
NG_005895.1:g.1933G>A , LRG_487:g.1933G>A
NG_008412.1:g.6629C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000219066.5:c.268C>T ENSP00000219066.1:p.Gln90Ter
ENST00000561841.1:n.164C>T
ENST00000566380.5:n.207C>T
ENST00000568513.5:n.173+42C>T
NM_002528.5:c.268C>T VV NP_002519.1:p.Gln90Ter
XM_011522505.1:c.268C>T XP_011520807.1:p.Gln90Ter