Canonical Allele Identifier: CA7828320
Gene: NTHL1 HGNC NCBI

Linked Data

dbSNP Id: rs545731865
gnomAD v2: 16-2096140-C-T
gnomAD v3: 16-2046139-C-T
gnomAD v4: 16-2046139-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2046139C>T , CM000678.2:g.2046139C>T GRCh38
NC_000016.9:g.2096140C>T , CM000678.1:g.2096140C>T GRCh37
NC_000016.8:g.2036141C>T NCBI36
NG_005895.1:g.1834C>T , LRG_487:g.1834C>T
NG_008412.1:g.6728G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000651522.1:c.52G>A ENSP00000498290.1:p.Ala18Thr
ENST00000651570.2:c.343G>A MANE Select ENSP00000498421.1:p.Ala115Thr
ENST00000651583.1:c.298G>A ENSP00000498821.1:p.Ala100Thr
ENST00000219066.5:c.367G>A ENSP00000219066.1:p.Ala123Thr
ENST00000561841.1:c.263G>A
ENST00000562120.1:n.76G>A
ENST00000566380.5:c.306G>A
ENST00000568513.5:c.173+141G>A
NM_002528.5:c.367G>A NP_002519.1:p.Ala123Thr
XM_011522505.1:c.367G>A XP_011520807.1:p.Ala123Thr
NM_001318193.1:c.367G>A NP_001305122.1:p.Ala123Thr
NM_001318194.1:c.24+141G>A NP_001305123.1:n.24+141G>A
NM_002528.6:c.367G>A NP_002519.1:p.Ala123Thr
XM_017023253.1:c.367G>A XP_016878742.1:p.Ala123Thr
NM_001318193.2:c.343G>A NP_001305122.2:p.Ala115Thr
NM_002528.7:c.343G>A MANE Select NP_002519.2:p.Ala115Thr
NM_001318194.2:c.24+141G>A NP_001305123.1:n.24+141G>A