Canonical Allele Identifier: CA394296793

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 1038743
• ClinVar RCV Id: RCV001342090
• dbSNP Id: rs145644817
• MyVariant Identifiers: chr16:g.2096208C>A (hg19) ; chr16:g.2046207C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046207C>A , CM000678.2:g.2046207C>A	GRCh38
NC_000016.9:g.2096208C>A , CM000678.1:g.2096208C>A	GRCh37
NC_000016.8:g.2036209C>A	NCBI36
NG_005895.1:g.1902C>A , LRG_487:g.1902C>A
NG_008412.1:g.6660G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.275G>T MANE Select	ENSP00000498421.1:p.Arg92Leu
ENST00000651583.1:c.230G>T	ENSP00000498821.1:p.Arg77Leu
ENST00000219066.5:c.299G>T	ENSP00000219066.1:p.Arg100Leu
ENST00000561841.1:c.195G>T
ENST00000562120.1:n.8G>T
ENST00000566380.5:c.238G>T
ENST00000568513.5:c.173+73G>T
NM_002528.5:c.299G>T	NP_002519.1:p.Arg100Leu
XM_011522505.1:c.299G>T	XP_011520807.1:p.Arg100Leu
NM_001318193.1:c.299G>T	NP_001305122.1:p.Arg100Leu
NM_001318194.1:c.24+73G>T	NP_001305123.1:n.24+73G>T
NM_002528.6:c.299G>T	NP_002519.1:p.Arg100Leu
XM_017023253.1:c.299G>T	XP_016878742.1:p.Arg100Leu
NM_001318193.2:c.275G>T	NP_001305122.2:p.Arg92Leu
NM_002528.7:c.275G>T MANE Select	NP_002519.2:p.Arg92Leu
NM_001318194.2:c.24+73G>T	NP_001305123.1:n.24+73G>T