Canonical Allele Identifier: CA394295145
Gene: NTHL1 HGNC NCBI

Linked Data

dbSNP Id: rs2150945049

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2046147T>G , CM000678.2:g.2046147T>G GRCh38
NC_000016.9:g.2096148T>G , CM000678.1:g.2096148T>G GRCh37
NC_000016.8:g.2036149T>G NCBI36
NG_005895.1:g.1842T>G , LRG_487:g.1842T>G
NG_008412.1:g.6720A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000651522.1:c.44A>C ENSP00000498290.1:p.Asp15Ala
ENST00000651570.2:c.335A>C MANE Select ENSP00000498421.1:p.Asp112Ala
ENST00000651583.1:c.290A>C ENSP00000498821.1:p.Asp97Ala
ENST00000219066.5:c.359A>C ENSP00000219066.1:p.Asp120Ala
ENST00000561841.1:c.255A>C
ENST00000562120.1:n.68A>C
ENST00000566380.5:c.298A>C
ENST00000568513.5:c.173+133A>C
NM_002528.5:c.359A>C NP_002519.1:p.Asp120Ala
XM_011522505.1:c.359A>C XP_011520807.1:p.Asp120Ala
NM_001318193.1:c.359A>C NP_001305122.1:p.Asp120Ala
NM_001318194.1:c.24+133A>C NP_001305123.1:n.24+133A>C
NM_002528.6:c.359A>C NP_002519.1:p.Asp120Ala
XM_017023253.1:c.359A>C XP_016878742.1:p.Asp120Ala
NM_001318193.2:c.335A>C NP_001305122.2:p.Asp112Ala
NM_002528.7:c.335A>C MANE Select NP_002519.2:p.Asp112Ala
NM_001318194.2:c.24+133A>C NP_001305123.1:n.24+133A>C