Canonical Allele Identifier: CA394295081
Gene: NTHL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1950742
ClinVar RCV Id: RCV002681456
dbSNP Id: rs545731865

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2046139C>G , CM000678.2:g.2046139C>G GRCh38
NC_000016.9:g.2096140C>G , CM000678.1:g.2096140C>G GRCh37
NC_000016.8:g.2036141C>G NCBI36
NG_005895.1:g.1834C>G , LRG_487:g.1834C>G
NG_008412.1:g.6728G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000651522.1:c.52G>C ENSP00000498290.1:p.Ala18Pro
ENST00000651570.2:c.343G>C MANE Select ENSP00000498421.1:p.Ala115Pro
ENST00000651583.1:c.298G>C ENSP00000498821.1:p.Ala100Pro
ENST00000219066.5:c.367G>C ENSP00000219066.1:p.Ala123Pro
ENST00000561841.1:c.263G>C
ENST00000562120.1:n.76G>C
ENST00000566380.5:c.306G>C
ENST00000568513.5:c.173+141G>C
NM_002528.5:c.367G>C NP_002519.1:p.Ala123Pro
XM_011522505.1:c.367G>C XP_011520807.1:p.Ala123Pro
NM_001318193.1:c.367G>C NP_001305122.1:p.Ala123Pro
NM_001318194.1:c.24+141G>C NP_001305123.1:n.24+141G>C
NM_002528.6:c.367G>C NP_002519.1:p.Ala123Pro
XM_017023253.1:c.367G>C XP_016878742.1:p.Ala123Pro
NM_001318193.2:c.343G>C NP_001305122.2:p.Ala115Pro
NM_002528.7:c.343G>C MANE Select NP_002519.2:p.Ala115Pro
NM_001318194.2:c.24+141G>C NP_001305123.1:n.24+141G>C