Canonical Allele Identifier: CA394295570

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 1395999
• ClinVar RCV Id: RCV001887320 ; RCV004041580
• dbSNP Id: rs760130778
• gnomAD v2: 16-2096188-C-T
• gnomAD v3: 16-2046187-C-T
• gnomAD v4: 16-2046187-C-T
• MyVariant Identifiers: chr16:g.2096188C>T (hg19) ; chr16:g.2046187C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046187C>T , CM000678.2:g.2046187C>T	GRCh38
NC_000016.9:g.2096188C>T , CM000678.1:g.2096188C>T	GRCh37
NC_000016.8:g.2036189C>T	NCBI36
NG_005895.1:g.1882C>T , LRG_487:g.1882C>T
NG_008412.1:g.6680G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651522.1:c.4G>A	ENSP00000498290.1:p.Asp2Asn
ENST00000651570.2:c.295G>A MANE Select	ENSP00000498421.1:p.Asp99Asn
ENST00000651583.1:c.250G>A	ENSP00000498821.1:p.Asp84Asn
ENST00000219066.5:c.319G>A	ENSP00000219066.1:p.Asp107Asn
ENST00000561841.1:c.215G>A
ENST00000562120.1:n.28G>A
ENST00000566380.5:c.258G>A
ENST00000568513.5:c.173+93G>A
NM_002528.5:c.319G>A	NP_002519.1:p.Asp107Asn
XM_011522505.1:c.319G>A	XP_011520807.1:p.Asp107Asn
NM_001318193.1:c.319G>A	NP_001305122.1:p.Asp107Asn
NM_001318194.1:c.24+93G>A	NP_001305123.1:n.24+93G>A
NM_002528.6:c.319G>A	NP_002519.1:p.Asp107Asn
XM_017023253.1:c.319G>A	XP_016878742.1:p.Asp107Asn
NM_001318193.2:c.295G>A	NP_001305122.2:p.Asp99Asn
NM_002528.7:c.295G>A MANE Select	NP_002519.2:p.Asp99Asn
NM_001318194.2:c.24+93G>A	NP_001305123.1:n.24+93G>A