Canonical Allele Identifier: CA7828363
Gene: NTHL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2046376G>C , CM000678.2:g.2046376G>C GRCh38
NC_000016.9:g.2096377G>C , CM000678.1:g.2096377G>C GRCh37
NC_000016.8:g.2036378G>C NCBI36
NG_005895.1:g.2071G>C , LRG_487:g.2071G>C
NG_008412.1:g.6491C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651570.2:c.116-10C>G MANE Select ENSP00000498421.1:n.116-10C>G
ENST00000651583.1:c.71-10C>G ENSP00000498821.1:n.71-10C>G
ENST00000219066.5:c.140-10C>G ENSP00000219066.1:n.140-10C>G
ENST00000561841.1:c.36-10C>G
ENST00000566380.5:c.79-10C>G
ENST00000568513.5:c.87-10C>G
NM_002528.5:c.140-10C>G NP_002519.1:n.140-10C>G
XM_011522505.1:c.140-10C>G XP_011520807.1:n.140-10C>G
NM_001318193.1:c.140-10C>G NP_001305122.1:n.140-10C>G
NM_001318194.1:c.-63-10C>G NP_001305123.1:n.-63-10C>G
NM_002528.6:c.140-10C>G NP_002519.1:n.140-10C>G
XM_017023253.1:c.140-10C>G XP_016878742.1:n.140-10C>G
NM_001318193.2:c.116-10C>G NP_001305122.2:n.116-10C>G
NM_002528.7:c.116-10C>G MANE Select NP_002519.2:n.116-10C>G
NM_001318194.2:c.-63-10C>G NP_001305123.1:n.-63-10C>G