Canonical Allele Identifier: CA492953217
Gene: NTHL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1457781
dbSNP Id: rs2150945100
MyVariant Identifiers: chr16:g.2096153G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2046152G>A , CM000678.2:g.2046152G>A GRCh38
NC_000016.9:g.2096153G>A , CM000678.1:g.2096153G>A GRCh37
NC_000016.8:g.2036154G>A NCBI36
NG_005895.1:g.1847G>A , LRG_487:g.1847G>A
NG_008412.1:g.6715C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000651522.1:c.39C>T ENSP00000498290.1:p.Cys13=
ENST00000651570.2:c.330C>T MANE Select ENSP00000498421.1:p.Cys110=
ENST00000651583.1:c.285C>T ENSP00000498821.1:p.Cys95=
ENST00000219066.5:c.354C>T ENSP00000219066.1:p.Cys118=
ENST00000561841.1:c.250C>T
ENST00000562120.1:n.63C>T
ENST00000566380.5:c.293C>T
ENST00000568513.5:c.173+128C>T
NM_002528.5:c.354C>T NP_002519.1:p.Cys118=
XM_011522505.1:c.354C>T XP_011520807.1:p.Cys118=
NM_001318193.1:c.354C>T NP_001305122.1:p.Cys118=
NM_001318194.1:c.24+128C>T NP_001305123.1:n.24+128C>T
NM_002528.6:c.354C>T NP_002519.1:p.Cys118=
XM_017023253.1:c.354C>T XP_016878742.1:p.Cys118=
NM_001318193.2:c.330C>T NP_001305122.2:p.Cys110=
NM_002528.7:c.330C>T MANE Select NP_002519.2:p.Cys110=
NM_001318194.2:c.24+128C>T NP_001305123.1:n.24+128C>T