Canonical Allele Identifier: CA394295549

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 3222668
• ClinVar RCV Id: RCV004516052
• MyVariant Identifiers: chr16:g.2096187T>A (hg19) ; chr16:g.2046186T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046186T>A , CM000678.2:g.2046186T>A	GRCh38
NC_000016.9:g.2096187T>A , CM000678.1:g.2096187T>A	GRCh37
NC_000016.8:g.2036188T>A	NCBI36
NG_005895.1:g.1881T>A , LRG_487:g.1881T>A
NG_008412.1:g.6681A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651522.1:c.5A>T	ENSP00000498290.1:p.Asp2Val
ENST00000651570.2:c.296A>T MANE Select	ENSP00000498421.1:p.Asp99Val
ENST00000651583.1:c.251A>T	ENSP00000498821.1:p.Asp84Val
ENST00000219066.5:c.320A>T	ENSP00000219066.1:p.Asp107Val
ENST00000561841.1:c.216A>T
ENST00000562120.1:n.29A>T
ENST00000566380.5:c.259A>T
ENST00000568513.5:c.173+94A>T
NM_002528.5:c.320A>T	NP_002519.1:p.Asp107Val
XM_011522505.1:c.320A>T	XP_011520807.1:p.Asp107Val
NM_001318193.1:c.320A>T	NP_001305122.1:p.Asp107Val
NM_001318194.1:c.24+94A>T	NP_001305123.1:n.24+94A>T
NM_002528.6:c.320A>T	NP_002519.1:p.Asp107Val
XM_017023253.1:c.320A>T	XP_016878742.1:p.Asp107Val
NM_001318193.2:c.296A>T	NP_001305122.2:p.Asp99Val
NM_002528.7:c.296A>T MANE Select	NP_002519.2:p.Asp99Val
NM_001318194.2:c.24+94A>T	NP_001305123.1:n.24+94A>T