Canonical Allele Identifier: CA394297341

Gene: NTHL1

Linked Data

• dbSNP Id: rs1364808920
• gnomAD v2: 16-2096254-G-T
• gnomAD v4: 16-2046253-G-T
• MyVariant Identifiers: chr16:g.2096254G>T (hg19) ; chr16:g.2046253G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046253G>T , CM000678.2:g.2046253G>T	GRCh38
NC_000016.9:g.2096254G>T , CM000678.1:g.2096254G>T	GRCh37
NC_000016.8:g.2036255G>T	NCBI36
NG_005895.1:g.1948G>T , LRG_487:g.1948G>T
NG_008412.1:g.6614C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.229C>A MANE Select	ENSP00000498421.1:p.Pro77Thr
ENST00000651583.1:c.184C>A	ENSP00000498821.1:p.Pro62Thr
ENST00000219066.5:c.253C>A	ENSP00000219066.1:p.Pro85Thr
ENST00000561841.1:c.149C>A
ENST00000566380.5:c.192C>A
ENST00000568513.5:c.173+27C>A
NM_002528.5:c.253C>A	NP_002519.1:p.Pro85Thr
XM_011522505.1:c.253C>A	XP_011520807.1:p.Pro85Thr
NM_001318193.1:c.253C>A	NP_001305122.1:p.Pro85Thr
NM_001318194.1:c.24+27C>A	NP_001305123.1:n.24+27C>A
NM_002528.6:c.253C>A	NP_002519.1:p.Pro85Thr
XM_017023253.1:c.253C>A	XP_016878742.1:p.Pro85Thr
NM_001318193.2:c.229C>A	NP_001305122.2:p.Pro77Thr
NM_002528.7:c.229C>A MANE Select	NP_002519.2:p.Pro77Thr
NM_001318194.2:c.24+27C>A	NP_001305123.1:n.24+27C>A