Canonical Allele Identifier: CA200196
Gene: NTHL1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.2046238G>A
GRCh37 chr16:g.2096239G>A
gnomAD v2:
16:2096239 G / A
gnomAD v3:
16:2046238 G / A
gnomAD v4:
chr16-2046238-G-A
Joint Max Group AF 0.00170283 (NFE)
Genomes Max Group AF 0.0015622 (NFE)
Exomes Max Group AF 0.00169734 (NFE)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000651570.2:c.244C>T MANE Select ENSP00000498421.1:p.Gln82Ter
ENST00000651583.1:c.199C>T ENSP00000498821.1:p.Gln67Ter
ENST00000219066.5:c.268C>T ENSP00000219066.1:p.Gln90Ter
ENST00000561841.1:c.164C>T
ENST00000566380.5:c.207C>T
ENST00000568513.5:c.173+42C>T
NM_002528.5:c.268C>T NP_002519.1:p.Gln90Ter
XM_011522505.1:c.268C>T XP_011520807.1:p.Gln90Ter
NM_001318193.1:c.268C>T NP_001305122.1:p.Gln90Ter
NM_001318194.1:c.24+42C>T NP_001305123.1:n.24+42C>T
NM_002528.6:c.268C>T NP_002519.1:p.Gln90Ter
XM_017023253.1:c.268C>T XP_016878742.1:p.Gln90Ter
NM_001318193.2:c.244C>T NP_001305122.2:p.Gln82Ter
NM_002528.7:c.244C>T MANE Select NP_002519.2:p.Gln82Ter
NM_001318194.2:c.24+42C>T NP_001305123.1:n.24+42C>T
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