Canonical Allele Identifier: CA620372570

Gene: NTHL1

Linked Data

• dbSNP Id: rs940048604
• gnomAD v2: 16-2096100-T-A
• gnomAD v4: 16-2046099-T-A
• MyVariant Identifiers: chr16:g.2096100T>A (hg19) ; chr16:g.2046099T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046099T>A , CM000678.2:g.2046099T>A	GRCh38
NC_000016.9:g.2096100T>A , CM000678.1:g.2096100T>A	GRCh37
NC_000016.8:g.2036101T>A	NCBI36
NG_005895.1:g.1794T>A , LRG_487:g.1794T>A
NG_008412.1:g.6768A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651522.1:c.63+29A>T	ENSP00000498290.1:n.63+29A>T
ENST00000651570.2:c.354+29A>T MANE Select	ENSP00000498421.1:n.354+29A>T
ENST00000651583.1:c.309+29A>T	ENSP00000498821.1:n.309+29A>T
ENST00000219066.5:c.378+29A>T	ENSP00000219066.1:n.378+29A>T
ENST00000561841.1:c.274+29A>T
ENST00000562120.1:n.87+29A>T
ENST00000566380.5:c.317+29A>T
ENST00000568513.5:c.173+181A>T
NM_002528.5:c.378+29A>T	NP_002519.1:n.378+29A>T
XM_011522505.1:c.378+29A>T	XP_011520807.1:n.378+29A>T
NM_001318193.1:c.378+29A>T	NP_001305122.1:n.378+29A>T
NM_001318194.1:c.24+181A>T	NP_001305123.1:n.24+181A>T
NM_002528.6:c.378+29A>T	NP_002519.1:n.378+29A>T
XM_017023253.1:c.378+29A>T	XP_016878742.1:n.378+29A>T
NM_001318193.2:c.354+29A>T	NP_001305122.2:n.354+29A>T
NM_002528.7:c.354+29A>T MANE Select	NP_002519.2:n.354+29A>T
NM_001318194.2:c.24+181A>T	NP_001305123.1:n.24+181A>T