Canonical Allele Identifier: CA718908871

Gene: NTHL1

Linked Data

• dbSNP Id: rs1330963823
• gnomAD v3: 16-2045968-G-A
• gnomAD v4: 16-2045968-G-A
• MyVariant Identifiers: chr16:g.2095969G>A (hg19) ; chr16:g.2045968G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2045968G>A , CM000678.2:g.2045968G>A	GRCh38
NC_000016.9:g.2095969G>A , CM000678.1:g.2095969G>A	GRCh37
NC_000016.8:g.2035970G>A	NCBI36
NG_005895.1:g.1663G>A , LRG_487:g.1663G>A
NG_008412.1:g.6899C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651522.1:c.63+160C>T	ENSP00000498290.1:n.63+160C>T
ENST00000651570.2:c.354+160C>T MANE Select	ENSP00000498421.1:n.354+160C>T
ENST00000651583.1:c.309+160C>T	ENSP00000498821.1:n.309+160C>T
ENST00000219066.5:c.378+160C>T	ENSP00000219066.1:n.378+160C>T
ENST00000561841.1:c.274+160C>T
ENST00000562120.1:n.87+160C>T
ENST00000566380.5:c.317+160C>T
ENST00000568513.5:c.173+312C>T
NM_002528.5:c.378+160C>T	NP_002519.1:n.378+160C>T
XM_011522505.1:c.378+160C>T	XP_011520807.1:n.378+160C>T
NM_001318193.1:c.378+160C>T	NP_001305122.1:n.378+160C>T
NM_001318194.1:c.24+312C>T	NP_001305123.1:n.24+312C>T
NM_002528.6:c.378+160C>T	NP_002519.1:n.378+160C>T
XM_017023253.1:c.378+160C>T	XP_016878742.1:n.378+160C>T
NM_001318193.2:c.354+160C>T	NP_001305122.2:n.354+160C>T
NM_002528.7:c.354+160C>T MANE Select	NP_002519.2:n.354+160C>T
NM_001318194.2:c.24+312C>T	NP_001305123.1:n.24+312C>T