Canonical Allele Identifier: CA394295285

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 2014505
• ClinVar RCV Id: RCV002861528
• MyVariant Identifiers: chr16:g.2096163G>A (hg19) ; chr16:g.2046162G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046162G>A , CM000678.2:g.2046162G>A	GRCh38
NC_000016.9:g.2096163G>A , CM000678.1:g.2096163G>A	GRCh37
NC_000016.8:g.2036164G>A	NCBI36
NG_005895.1:g.1857G>A , LRG_487:g.1857G>A
NG_008412.1:g.6705C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651522.1:c.29C>T	ENSP00000498290.1:p.Thr10Ile
ENST00000651570.2:c.320C>T MANE Select	ENSP00000498421.1:p.Thr107Ile
ENST00000651583.1:c.275C>T	ENSP00000498821.1:p.Thr92Ile
ENST00000219066.5:c.344C>T	ENSP00000219066.1:p.Thr115Ile
ENST00000561841.1:c.240C>T
ENST00000562120.1:n.53C>T
ENST00000566380.5:c.283C>T
ENST00000568513.5:c.173+118C>T
NM_002528.5:c.344C>T	NP_002519.1:p.Thr115Ile
XM_011522505.1:c.344C>T	XP_011520807.1:p.Thr115Ile
NM_001318193.1:c.344C>T	NP_001305122.1:p.Thr115Ile
NM_001318194.1:c.24+118C>T	NP_001305123.1:n.24+118C>T
NM_002528.6:c.344C>T	NP_002519.1:p.Thr115Ile
XM_017023253.1:c.344C>T	XP_016878742.1:p.Thr115Ile
NM_001318193.2:c.320C>T	NP_001305122.2:p.Thr107Ile
NM_002528.7:c.320C>T MANE Select	NP_002519.2:p.Thr107Ile
NM_001318194.2:c.24+118C>T	NP_001305123.1:n.24+118C>T