Canonical Allele Identifier: CA394297061

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 1020051
• ClinVar RCV Id: RCV001319571 ; RCV002438726
• dbSNP Id: rs201671098
• gnomAD v4: 16-2046223-G-C
• MyVariant Identifiers: chr16:g.2096224G>C (hg19) ; chr16:g.2046223G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046223G>C , CM000678.2:g.2046223G>C	GRCh38
NC_000016.9:g.2096224G>C , CM000678.1:g.2096224G>C	GRCh37
NC_000016.8:g.2036225G>C	NCBI36
NG_005895.1:g.1918G>C , LRG_487:g.1918G>C
NG_008412.1:g.6644C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.259C>G MANE Select	ENSP00000498421.1:p.Gln87Glu
ENST00000651583.1:c.214C>G	ENSP00000498821.1:p.Gln72Glu
ENST00000219066.5:c.283C>G	ENSP00000219066.1:p.Gln95Glu
ENST00000561841.1:c.179C>G
ENST00000566380.5:c.222C>G
ENST00000568513.5:c.173+57C>G
NM_002528.5:c.283C>G	NP_002519.1:p.Gln95Glu
XM_011522505.1:c.283C>G	XP_011520807.1:p.Gln95Glu
NM_001318193.1:c.283C>G	NP_001305122.1:p.Gln95Glu
NM_001318194.1:c.24+57C>G	NP_001305123.1:n.24+57C>G
NM_002528.6:c.283C>G	NP_002519.1:p.Gln95Glu
XM_017023253.1:c.283C>G	XP_016878742.1:p.Gln95Glu
NM_001318193.2:c.259C>G	NP_001305122.2:p.Gln87Glu
NM_002528.7:c.259C>G MANE Select	NP_002519.2:p.Gln87Glu
NM_001318194.2:c.24+57C>G	NP_001305123.1:n.24+57C>G