Canonical Allele Identifier: CA973765598

Gene: NTHL1

Linked Data

• dbSNP Id: rs2084348859
• gnomAD v3: 16-2045939-C-T
• gnomAD v4: 16-2045939-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2045939C>T , CM000678.2:g.2045939C>T	GRCh38
NC_000016.9:g.2095940C>T , CM000678.1:g.2095940C>T	GRCh37
NC_000016.8:g.2035941C>T	NCBI36
NG_005895.1:g.1634C>T , LRG_487:g.1634C>T
NG_008412.1:g.6928G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651522.1:c.63+189G>A	ENSP00000498290.1:n.63+189G>A
ENST00000651570.2:c.354+189G>A MANE Select	ENSP00000498421.1:n.354+189G>A
ENST00000651583.1:c.309+189G>A	ENSP00000498821.1:n.309+189G>A
ENST00000219066.5:c.378+189G>A	ENSP00000219066.1:n.378+189G>A
ENST00000561841.1:c.274+189G>A
ENST00000562120.1:n.87+189G>A
ENST00000566380.5:c.317+189G>A
ENST00000568513.5:c.173+341G>A
NM_002528.5:c.378+189G>A	NP_002519.1:n.378+189G>A
XM_011522505.1:c.378+189G>A	XP_011520807.1:n.378+189G>A
NM_001318193.1:c.378+189G>A	NP_001305122.1:n.378+189G>A
NM_001318194.1:c.24+341G>A	NP_001305123.1:n.24+341G>A
NM_002528.6:c.378+189G>A	NP_002519.1:n.378+189G>A
XM_017023253.1:c.378+189G>A	XP_016878742.1:n.378+189G>A
NM_001318193.2:c.354+189G>A	NP_001305122.2:n.354+189G>A
NM_002528.7:c.354+189G>A MANE Select	NP_002519.2:n.354+189G>A
NM_001318194.2:c.24+341G>A	NP_001305123.1:n.24+341G>A