Canonical Allele Identifier: CA7828337

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 656073
• ClinVar RCV Id: RCV000812392 ; RCV002255533
• dbSNP Id: rs372698989
• ExAC: 16:2096231 C / G
• gnomAD v2: 16-2096231-C-G
• gnomAD v3: 16-2046230-C-G
• gnomAD v4: 16-2046230-C-G
• MyVariant Identifiers: chr16:g.2096231C>G (hg19) ; chr16:g.2046230C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046230C>G , CM000678.2:g.2046230C>G	GRCh38
NC_000016.9:g.2096231C>G , CM000678.1:g.2096231C>G	GRCh37
NC_000016.8:g.2036232C>G	NCBI36
NG_005895.1:g.1925C>G , LRG_487:g.1925C>G
NG_008412.1:g.6637G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.252G>C MANE Select	ENSP00000498421.1:p.Trp84Cys
ENST00000651583.1:c.207G>C	ENSP00000498821.1:p.Trp69Cys
ENST00000219066.5:c.276G>C	ENSP00000219066.1:p.Trp92Cys
ENST00000561841.1:c.172G>C
ENST00000566380.5:c.215G>C
ENST00000568513.5:c.173+50G>C
NM_002528.5:c.276G>C	NP_002519.1:p.Trp92Cys
XM_011522505.1:c.276G>C	XP_011520807.1:p.Trp92Cys
NM_001318193.1:c.276G>C	NP_001305122.1:p.Trp92Cys
NM_001318194.1:c.24+50G>C	NP_001305123.1:n.24+50G>C
NM_002528.6:c.276G>C	NP_002519.1:p.Trp92Cys
XM_017023253.1:c.276G>C	XP_016878742.1:p.Trp92Cys
NM_001318193.2:c.252G>C	NP_001305122.2:p.Trp84Cys
NM_002528.7:c.252G>C MANE Select	NP_002519.2:p.Trp84Cys
NM_001318194.2:c.24+50G>C	NP_001305123.1:n.24+50G>C