Canonical Allele Identifier: CA492953169

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 1734932
• ClinVar RCV Id: RCV002353066
• MyVariant Identifiers: chr16:g.2096129C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046128C>T , CM000678.2:g.2046128C>T	GRCh38
NC_000016.9:g.2096129C>T , CM000678.1:g.2096129C>T	GRCh37
NC_000016.8:g.2036130C>T	NCBI36
NG_005895.1:g.1823C>T , LRG_487:g.1823C>T
NG_008412.1:g.6739G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651522.1:c.63G>A	ENSP00000498290.1:p.Lys21=
ENST00000651570.2:c.354G>A MANE Select	ENSP00000498421.1:p.Lys118=
ENST00000651583.1:c.309G>A	ENSP00000498821.1:p.Lys103=
ENST00000219066.5:c.378G>A	ENSP00000219066.1:p.Lys126=
ENST00000561841.1:c.274G>A
ENST00000562120.1:n.87G>A
ENST00000566380.5:c.317G>A
ENST00000568513.5:c.173+152G>A
NM_002528.5:c.378G>A	NP_002519.1:p.Lys126=
XM_011522505.1:c.378G>A	XP_011520807.1:p.Lys126=
NM_001318193.1:c.378G>A	NP_001305122.1:p.Lys126=
NM_001318194.1:c.24+152G>A	NP_001305123.1:n.24+152G>A
NM_002528.6:c.378G>A	NP_002519.1:p.Lys126=
XM_017023253.1:c.378G>A	XP_016878742.1:p.Lys126=
NM_001318193.2:c.354G>A	NP_001305122.2:p.Lys118=
NM_002528.7:c.354G>A MANE Select	NP_002519.2:p.Lys118=
NM_001318194.2:c.24+152G>A	NP_001305123.1:n.24+152G>A