Canonical Allele Identifier: CA394295240

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 850472
• ClinVar RCV Id: RCV001054645
• dbSNP Id: rs2084364362
• gnomAD v4: 16-2046156-T-C
• MyVariant Identifiers: chr16:g.2096157T>C (hg19) ; chr16:g.2046156T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046156T>C , CM000678.2:g.2046156T>C	GRCh38
NC_000016.9:g.2096157T>C , CM000678.1:g.2096157T>C	GRCh37
NC_000016.8:g.2036158T>C	NCBI36
NG_005895.1:g.1851T>C , LRG_487:g.1851T>C
NG_008412.1:g.6711A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000651522.1:c.35A>G	ENSP00000498290.1:p.His12Arg
ENST00000651570.2:c.326A>G MANE Select	ENSP00000498421.1:p.His109Arg
ENST00000651583.1:c.281A>G	ENSP00000498821.1:p.His94Arg
ENST00000219066.5:c.350A>G	ENSP00000219066.1:p.His117Arg
ENST00000561841.1:c.246A>G
ENST00000562120.1:n.59A>G
ENST00000566380.5:c.289A>G
ENST00000568513.5:c.173+124A>G
NM_002528.5:c.350A>G	NP_002519.1:p.His117Arg
XM_011522505.1:c.350A>G	XP_011520807.1:p.His117Arg
NM_001318193.1:c.350A>G	NP_001305122.1:p.His117Arg
NM_001318194.1:c.24+124A>G	NP_001305123.1:n.24+124A>G
NM_002528.6:c.350A>G	NP_002519.1:p.His117Arg
XM_017023253.1:c.350A>G	XP_016878742.1:p.His117Arg
NM_001318193.2:c.326A>G	NP_001305122.2:p.His109Arg
NM_002528.7:c.326A>G MANE Select	NP_002519.2:p.His109Arg
NM_001318194.2:c.24+124A>G	NP_001305123.1:n.24+124A>G