Canonical Allele Identifier: CA394297262

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 948042
• ClinVar RCV Id: RCV001219220
• dbSNP Id: rs2084374285
• MyVariant Identifiers: chr16:g.2096246C>G (hg19) ; chr16:g.2046245C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046245C>G , CM000678.2:g.2046245C>G	GRCh38
NC_000016.9:g.2096246C>G , CM000678.1:g.2096246C>G	GRCh37
NC_000016.8:g.2036247C>G	NCBI36
NG_005895.1:g.1940C>G , LRG_487:g.1940C>G
NG_008412.1:g.6622G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.237G>C MANE Select	ENSP00000498421.1:p.Trp79Cys
ENST00000651583.1:c.192G>C	ENSP00000498821.1:p.Trp64Cys
ENST00000219066.5:c.261G>C	ENSP00000219066.1:p.Trp87Cys
ENST00000561841.1:c.157G>C
ENST00000566380.5:c.200G>C
ENST00000568513.5:c.173+35G>C
NM_002528.5:c.261G>C	NP_002519.1:p.Trp87Cys
XM_011522505.1:c.261G>C	XP_011520807.1:p.Trp87Cys
NM_001318193.1:c.261G>C	NP_001305122.1:p.Trp87Cys
NM_001318194.1:c.24+35G>C	NP_001305123.1:n.24+35G>C
NM_002528.6:c.261G>C	NP_002519.1:p.Trp87Cys
XM_017023253.1:c.261G>C	XP_016878742.1:p.Trp87Cys
NM_001318193.2:c.237G>C	NP_001305122.2:p.Trp79Cys
NM_002528.7:c.237G>C MANE Select	NP_002519.2:p.Trp79Cys
NM_001318194.2:c.24+35G>C	NP_001305123.1:n.24+35G>C