Canonical Allele Identifier: CA394296971

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 1797571
• ClinVar RCV Id: RCV002439821 ; RCV003698961
• dbSNP Id: rs1596222888
• gnomAD v4: 16-2046216-A-T
• MyVariant Identifiers: chr16:g.2096217A>T (hg19) ; chr16:g.2046216A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046216A>T , CM000678.2:g.2046216A>T	GRCh38
NC_000016.9:g.2096217A>T , CM000678.1:g.2096217A>T	GRCh37
NC_000016.8:g.2036218A>T	NCBI36
NG_005895.1:g.1911A>T , LRG_487:g.1911A>T
NG_008412.1:g.6651T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.266T>A MANE Select	ENSP00000498421.1:p.Val89Asp
ENST00000651583.1:c.221T>A	ENSP00000498821.1:p.Val74Asp
ENST00000219066.5:c.290T>A	ENSP00000219066.1:p.Val97Asp
ENST00000561841.1:c.186T>A
ENST00000566380.5:c.229T>A
ENST00000568513.5:c.173+64T>A
NM_002528.5:c.290T>A	NP_002519.1:p.Val97Asp
XM_011522505.1:c.290T>A	XP_011520807.1:p.Val97Asp
NM_001318193.1:c.290T>A	NP_001305122.1:p.Val97Asp
NM_001318194.1:c.24+64T>A	NP_001305123.1:n.24+64T>A
NM_002528.6:c.290T>A	NP_002519.1:p.Val97Asp
XM_017023253.1:c.290T>A	XP_016878742.1:p.Val97Asp
NM_001318193.2:c.266T>A	NP_001305122.2:p.Val89Asp
NM_002528.7:c.266T>A MANE Select	NP_002519.2:p.Val89Asp
NM_001318194.2:c.24+64T>A	NP_001305123.1:n.24+64T>A