Canonical Allele Identifier: CA7828332

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 499145
• ClinVar RCV Id: RCV000592496 ; RCV000765258 ; RCV001017807 ; RCV001800825 ; RCV003945401
• dbSNP Id: rs148104494
• ExAC: 16:2096209 G / A
• gnomAD v2: 16-2096209-G-A
• gnomAD v3: 16-2046208-G-A
• gnomAD v4: 16-2046208-G-A
• MyVariant Identifiers: chr16:g.2096209G>A (hg19) ; chr16:g.2046208G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046208G>A , CM000678.2:g.2046208G>A	GRCh38
NC_000016.9:g.2096209G>A , CM000678.1:g.2096209G>A	GRCh37
NC_000016.8:g.2036210G>A	NCBI36
NG_005895.1:g.1903G>A , LRG_487:g.1903G>A
NG_008412.1:g.6659C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.274C>T MANE Select	ENSP00000498421.1:p.Arg92Cys
ENST00000651583.1:c.229C>T	ENSP00000498821.1:p.Arg77Cys
ENST00000219066.5:c.298C>T	ENSP00000219066.1:p.Arg100Cys
ENST00000561841.1:c.194C>T
ENST00000562120.1:n.7C>T
ENST00000566380.5:c.237C>T
ENST00000568513.5:c.173+72C>T
NM_002528.5:c.298C>T	NP_002519.1:p.Arg100Cys
XM_011522505.1:c.298C>T	XP_011520807.1:p.Arg100Cys
NM_001318193.1:c.298C>T	NP_001305122.1:p.Arg100Cys
NM_001318194.1:c.24+72C>T	NP_001305123.1:n.24+72C>T
NM_002528.6:c.298C>T	NP_002519.1:p.Arg100Cys
XM_017023253.1:c.298C>T	XP_016878742.1:p.Arg100Cys
NM_001318193.2:c.274C>T	NP_001305122.2:p.Arg92Cys
NM_002528.7:c.274C>T MANE Select	NP_002519.2:p.Arg92Cys
NM_001318194.2:c.24+72C>T	NP_001305123.1:n.24+72C>T