Canonical Allele Identifier: CA394295043

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 2624713
• ClinVar RCV Id: RCV003377547
• dbSNP Id: rs777263711
• gnomAD v2: 16-2096133-G-C
• MyVariant Identifiers: chr16:g.2096133G>C (hg19) ; chr16:g.2046132G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046132G>C , CM000678.2:g.2046132G>C	GRCh38
NC_000016.9:g.2096133G>C , CM000678.1:g.2096133G>C	GRCh37
NC_000016.8:g.2036134G>C	NCBI36
NG_005895.1:g.1827G>C , LRG_487:g.1827G>C
NG_008412.1:g.6735C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651522.1:c.59C>G	ENSP00000498290.1:p.Pro20Arg
ENST00000651570.2:c.350C>G MANE Select	ENSP00000498421.1:p.Pro117Arg
ENST00000651583.1:c.305C>G	ENSP00000498821.1:p.Pro102Arg
ENST00000219066.5:c.374C>G	ENSP00000219066.1:p.Pro125Arg
ENST00000561841.1:c.270C>G
ENST00000562120.1:n.83C>G
ENST00000566380.5:c.313C>G
ENST00000568513.5:c.173+148C>G
NM_002528.5:c.374C>G	NP_002519.1:p.Pro125Arg
XM_011522505.1:c.374C>G	XP_011520807.1:p.Pro125Arg
NM_001318193.1:c.374C>G	NP_001305122.1:p.Pro125Arg
NM_001318194.1:c.24+148C>G	NP_001305123.1:n.24+148C>G
NM_002528.6:c.374C>G	NP_002519.1:p.Pro125Arg
XM_017023253.1:c.374C>G	XP_016878742.1:p.Pro125Arg
NM_001318193.2:c.350C>G	NP_001305122.2:p.Pro117Arg
NM_002528.7:c.350C>G MANE Select	NP_002519.2:p.Pro117Arg
NM_001318194.2:c.24+148C>G	NP_001305123.1:n.24+148C>G