Canonical Allele Identifier: CA492953305
Gene: NTHL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1091839
dbSNP Id: rs2084371810
gnomAD v3: 16-2046224-T-C
gnomAD v4: 16-2046224-T-C
MyVariant Identifiers: chr16:g.2096225T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2046224T>C , CM000678.2:g.2046224T>C GRCh38
NC_000016.9:g.2096225T>C , CM000678.1:g.2096225T>C GRCh37
NC_000016.8:g.2036226T>C NCBI36
NG_005895.1:g.1919T>C , LRG_487:g.1919T>C
NG_008412.1:g.6643A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651570.2:c.258A>G MANE Select ENSP00000498421.1:p.Gln86=
ENST00000651583.1:c.213A>G ENSP00000498821.1:p.Gln71=
ENST00000219066.5:c.282A>G ENSP00000219066.1:p.Gln94=
ENST00000561841.1:c.178A>G
ENST00000566380.5:c.221A>G
ENST00000568513.5:c.173+56A>G
NM_002528.5:c.282A>G NP_002519.1:p.Gln94=
XM_011522505.1:c.282A>G XP_011520807.1:p.Gln94=
NM_001318193.1:c.282A>G NP_001305122.1:p.Gln94=
NM_001318194.1:c.24+56A>G NP_001305123.1:n.24+56A>G
NM_002528.6:c.282A>G NP_002519.1:p.Gln94=
XM_017023253.1:c.282A>G XP_016878742.1:p.Gln94=
NM_001318193.2:c.258A>G NP_001305122.2:p.Gln86=
NM_002528.7:c.258A>G MANE Select NP_002519.2:p.Gln86=
NM_001318194.2:c.24+56A>G NP_001305123.1:n.24+56A>G