Canonical Allele Identifier: CA394295376

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 1692694
• ClinVar RCV Id: RCV002258607
• dbSNP Id: rs2150945263
• MyVariant Identifiers: chr16:g.2096169A>G (hg19) ; chr16:g.2046168A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046168A>G , CM000678.2:g.2046168A>G	GRCh38
NC_000016.9:g.2096169A>G , CM000678.1:g.2096169A>G	GRCh37
NC_000016.8:g.2036170A>G	NCBI36
NG_005895.1:g.1863A>G , LRG_487:g.1863A>G
NG_008412.1:g.6699T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651522.1:c.23T>C	ENSP00000498290.1:p.Leu8Pro
ENST00000651570.2:c.314T>C MANE Select	ENSP00000498421.1:p.Leu105Pro
ENST00000651583.1:c.269T>C	ENSP00000498821.1:p.Leu90Pro
ENST00000219066.5:c.338T>C	ENSP00000219066.1:p.Leu113Pro
ENST00000561841.1:c.234T>C
ENST00000562120.1:n.47T>C
ENST00000566380.5:c.277T>C
ENST00000568513.5:c.173+112T>C
NM_002528.5:c.338T>C	NP_002519.1:p.Leu113Pro
XM_011522505.1:c.338T>C	XP_011520807.1:p.Leu113Pro
NM_001318193.1:c.338T>C	NP_001305122.1:p.Leu113Pro
NM_001318194.1:c.24+112T>C	NP_001305123.1:n.24+112T>C
NM_002528.6:c.338T>C	NP_002519.1:p.Leu113Pro
XM_017023253.1:c.338T>C	XP_016878742.1:p.Leu113Pro
NM_001318193.2:c.314T>C	NP_001305122.2:p.Leu105Pro
NM_002528.7:c.314T>C MANE Select	NP_002519.2:p.Leu105Pro
NM_001318194.2:c.24+112T>C	NP_001305123.1:n.24+112T>C