Canonical Allele Identifier: CA394295089

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 942462
• ClinVar RCV Id: RCV001212455 ; RCV002348700
• dbSNP Id: rs2084362839
• MyVariant Identifiers: chr16:g.2096141A>C (hg19) ; chr16:g.2046140A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046140A>C , CM000678.2:g.2046140A>C	GRCh38
NC_000016.9:g.2096141A>C , CM000678.1:g.2096141A>C	GRCh37
NC_000016.8:g.2036142A>C	NCBI36
NG_005895.1:g.1835A>C , LRG_487:g.1835A>C
NG_008412.1:g.6727T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651522.1:c.51T>G	ENSP00000498290.1:p.Ser17Arg
ENST00000651570.2:c.342T>G MANE Select	ENSP00000498421.1:p.Ser114Arg
ENST00000651583.1:c.297T>G	ENSP00000498821.1:p.Ser99Arg
ENST00000219066.5:c.366T>G	ENSP00000219066.1:p.Ser122Arg
ENST00000561841.1:c.262T>G
ENST00000562120.1:n.75T>G
ENST00000566380.5:c.305T>G
ENST00000568513.5:c.173+140T>G
NM_002528.5:c.366T>G	NP_002519.1:p.Ser122Arg
XM_011522505.1:c.366T>G	XP_011520807.1:p.Ser122Arg
NM_001318193.1:c.366T>G	NP_001305122.1:p.Ser122Arg
NM_001318194.1:c.24+140T>G	NP_001305123.1:n.24+140T>G
NM_002528.6:c.366T>G	NP_002519.1:p.Ser122Arg
XM_017023253.1:c.366T>G	XP_016878742.1:p.Ser122Arg
NM_001318193.2:c.342T>G	NP_001305122.2:p.Ser114Arg
NM_002528.7:c.342T>G MANE Select	NP_002519.2:p.Ser114Arg
NM_001318194.2:c.24+140T>G	NP_001305123.1:n.24+140T>G