Canonical Allele Identifier: CA394295319

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 1485741
• ClinVar RCV Id: RCV002000959
• dbSNP Id: rs1015524126
• gnomAD v4: 16-2046163-T-C
• MyVariant Identifiers: chr16:g.2096164T>C (hg19) ; chr16:g.2046163T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046163T>C , CM000678.2:g.2046163T>C	GRCh38
NC_000016.9:g.2096164T>C , CM000678.1:g.2096164T>C	GRCh37
NC_000016.8:g.2036165T>C	NCBI36
NG_005895.1:g.1858T>C , LRG_487:g.1858T>C
NG_008412.1:g.6704A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651522.1:c.28A>G	ENSP00000498290.1:p.Thr10Ala
ENST00000651570.2:c.319A>G MANE Select	ENSP00000498421.1:p.Thr107Ala
ENST00000651583.1:c.274A>G	ENSP00000498821.1:p.Thr92Ala
ENST00000219066.5:c.343A>G	ENSP00000219066.1:p.Thr115Ala
ENST00000561841.1:c.239A>G
ENST00000562120.1:n.52A>G
ENST00000566380.5:c.282A>G
ENST00000568513.5:c.173+117A>G
NM_002528.5:c.343A>G	NP_002519.1:p.Thr115Ala
XM_011522505.1:c.343A>G	XP_011520807.1:p.Thr115Ala
NM_001318193.1:c.343A>G	NP_001305122.1:p.Thr115Ala
NM_001318194.1:c.24+117A>G	NP_001305123.1:n.24+117A>G
NM_002528.6:c.343A>G	NP_002519.1:p.Thr115Ala
XM_017023253.1:c.343A>G	XP_016878742.1:p.Thr115Ala
NM_001318193.2:c.319A>G	NP_001305122.2:p.Thr107Ala
NM_002528.7:c.319A>G MANE Select	NP_002519.2:p.Thr107Ala
NM_001318194.2:c.24+117A>G	NP_001305123.1:n.24+117A>G