Canonical Allele Identifier: CA7828342

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 641498
• ClinVar RCV Id: RCV000794751 ; RCV002422698
• dbSNP Id: rs747885276
• ExAC: 16:2096289 C / T
• gnomAD v2: 16-2096289-C-T
• gnomAD v4: 16-2046288-C-T
• MyVariant Identifiers: chr16:g.2096289C>T (hg19) ; chr16:g.2046288C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046288C>T , CM000678.2:g.2046288C>T	GRCh38
NC_000016.9:g.2096289C>T , CM000678.1:g.2096289C>T	GRCh37
NC_000016.8:g.2036290C>T	NCBI36
NG_005895.1:g.1983C>T , LRG_487:g.1983C>T
NG_008412.1:g.6579G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.194G>A MANE Select	ENSP00000498421.1:p.Ser65Asn
ENST00000651583.1:c.149G>A	ENSP00000498821.1:p.Ser50Asn
ENST00000219066.5:c.218G>A	ENSP00000219066.1:p.Ser73Asn
ENST00000561841.1:c.114G>A
ENST00000566380.5:c.157G>A
ENST00000568513.5:c.165G>A
NM_002528.5:c.218G>A	NP_002519.1:p.Ser73Asn
XM_011522505.1:c.218G>A	XP_011520807.1:p.Ser73Asn
NM_001318193.1:c.218G>A	NP_001305122.1:p.Ser73Asn
NM_001318194.1:c.16G>A	NP_001305123.1:p.Val6Met
NM_002528.6:c.218G>A	NP_002519.1:p.Ser73Asn
XM_017023253.1:c.218G>A	XP_016878742.1:p.Ser73Asn
NM_001318193.2:c.194G>A	NP_001305122.2:p.Ser65Asn
NM_002528.7:c.194G>A MANE Select	NP_002519.2:p.Ser65Asn
NM_001318194.2:c.16G>A	NP_001305123.1:p.Val6Met