Canonical Allele Identifier: CA394295693

Gene: NTHL1

Linked Data

• dbSNP Id: rs2084369533
• gnomAD v4: 16-2046198-C-G
• MyVariant Identifiers: chr16:g.2096199C>G (hg19) ; chr16:g.2046198C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046198C>G , CM000678.2:g.2046198C>G	GRCh38
NC_000016.9:g.2096199C>G , CM000678.1:g.2096199C>G	GRCh37
NC_000016.8:g.2036200C>G	NCBI36
NG_005895.1:g.1893C>G , LRG_487:g.1893C>G
NG_008412.1:g.6669G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.284G>C MANE Select	ENSP00000498421.1:p.Arg95Thr
ENST00000651583.1:c.239G>C	ENSP00000498821.1:p.Arg80Thr
ENST00000219066.5:c.308G>C	ENSP00000219066.1:p.Arg103Thr
ENST00000561841.1:c.204G>C
ENST00000562120.1:n.17G>C
ENST00000566380.5:c.247G>C
ENST00000568513.5:c.173+82G>C
NM_002528.5:c.308G>C	NP_002519.1:p.Arg103Thr
XM_011522505.1:c.308G>C	XP_011520807.1:p.Arg103Thr
NM_001318193.1:c.308G>C	NP_001305122.1:p.Arg103Thr
NM_001318194.1:c.24+82G>C	NP_001305123.1:n.24+82G>C
NM_002528.6:c.308G>C	NP_002519.1:p.Arg103Thr
XM_017023253.1:c.308G>C	XP_016878742.1:p.Arg103Thr
NM_001318193.2:c.284G>C	NP_001305122.2:p.Arg95Thr
NM_002528.7:c.284G>C MANE Select	NP_002519.2:p.Arg95Thr
NM_001318194.2:c.24+82G>C	NP_001305123.1:n.24+82G>C