Canonical Allele Identifier: CA620372568

Gene: NTHL1

Linked Data

• dbSNP Id: rs1355508700
• gnomAD v2: 16-2096057-C-T
• gnomAD v3: 16-2046056-C-T
• gnomAD v4: 16-2046056-C-T
• MyVariant Identifiers: chr16:g.2096057C>T (hg19) ; chr16:g.2046056C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046056C>T , CM000678.2:g.2046056C>T	GRCh38
NC_000016.9:g.2096057C>T , CM000678.1:g.2096057C>T	GRCh37
NC_000016.8:g.2036058C>T	NCBI36
NG_005895.1:g.1751C>T , LRG_487:g.1751C>T
NG_008412.1:g.6811G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651522.1:c.63+72G>A	ENSP00000498290.1:n.63+72G>A
ENST00000651570.2:c.354+72G>A MANE Select	ENSP00000498421.1:n.354+72G>A
ENST00000651583.1:c.309+72G>A	ENSP00000498821.1:n.309+72G>A
ENST00000219066.5:c.378+72G>A	ENSP00000219066.1:n.378+72G>A
ENST00000561841.1:c.274+72G>A
ENST00000562120.1:n.87+72G>A
ENST00000566380.5:c.317+72G>A
ENST00000568513.5:c.173+224G>A
NM_002528.5:c.378+72G>A	NP_002519.1:n.378+72G>A
XM_011522505.1:c.378+72G>A	XP_011520807.1:n.378+72G>A
NM_001318193.1:c.378+72G>A	NP_001305122.1:n.378+72G>A
NM_001318194.1:c.24+224G>A	NP_001305123.1:n.24+224G>A
NM_002528.6:c.378+72G>A	NP_002519.1:n.378+72G>A
XM_017023253.1:c.378+72G>A	XP_016878742.1:n.378+72G>A
NM_001318193.2:c.354+72G>A	NP_001305122.2:n.354+72G>A
NM_002528.7:c.354+72G>A MANE Select	NP_002519.2:n.354+72G>A
NM_001318194.2:c.24+224G>A	NP_001305123.1:n.24+224G>A