Canonical Allele Identifier: CA973765603

Gene: NTHL1

Linked Data

• dbSNP Id: rs2084350546
• gnomAD v3: 16-2045986-G-GC
• gnomAD v4: 16-2045986-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2045987dup , CM000678.2:g.2045987dup	GRCh38
NC_000016.9:g.2095988dup , CM000678.1:g.2095988dup	GRCh37
NC_000016.8:g.2035989dup	NCBI36
NG_005895.1:g.1682dup , LRG_487:g.1682dup
NG_008412.1:g.6880dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651522.1:c.63+141dup	ENSP00000498290.1:n.63+141dup
ENST00000651570.2:c.354+141dup MANE Select	ENSP00000498421.1:n.354+141dup
ENST00000651583.1:c.309+141dup	ENSP00000498821.1:n.309+141dup
ENST00000219066.5:c.378+141dup	ENSP00000219066.1:n.378+141dup
ENST00000561841.1:c.274+141dup
ENST00000562120.1:n.87+141dup
ENST00000566380.5:c.317+141dup
ENST00000568513.5:c.173+293dup
NM_002528.5:c.378+141dup	NP_002519.1:n.378+141dup
XM_011522505.1:c.378+141dup	XP_011520807.1:n.378+141dup
NM_001318193.1:c.378+141dup	NP_001305122.1:n.378+141dup
NM_001318194.1:c.24+293dup	NP_001305123.1:n.24+293dup
NM_002528.6:c.378+141dup	NP_002519.1:n.378+141dup
XM_017023253.1:c.378+141dup	XP_016878742.1:n.378+141dup
NM_001318193.2:c.354+141dup	NP_001305122.2:n.354+141dup
NM_002528.7:c.354+141dup MANE Select	NP_002519.2:n.354+141dup
NM_001318194.2:c.24+293dup	NP_001305123.1:n.24+293dup