Canonical Allele Identifier: CA7828317

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 649509
• ClinVar RCV Id: RCV000804461 ; RCV001020940
• dbSNP Id: rs143696592
• ExAC: 16:2096137 G / T
• gnomAD v2: 16-2096137-G-T
• gnomAD v3: 16-2046136-G-T
• gnomAD v4: 16-2046136-G-T
• MyVariant Identifiers: chr16:g.2096137G>T (hg19) ; chr16:g.2046136G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046136G>T , CM000678.2:g.2046136G>T	GRCh38
NC_000016.9:g.2096137G>T , CM000678.1:g.2096137G>T	GRCh37
NC_000016.8:g.2036138G>T	NCBI36
NG_005895.1:g.1831G>T , LRG_487:g.1831G>T
NG_008412.1:g.6731C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651522.1:c.55C>A	ENSP00000498290.1:p.Pro19Thr
ENST00000651570.2:c.346C>A MANE Select	ENSP00000498421.1:p.Pro116Thr
ENST00000651583.1:c.301C>A	ENSP00000498821.1:p.Pro101Thr
ENST00000219066.5:c.370C>A	ENSP00000219066.1:p.Pro124Thr
ENST00000561841.1:c.266C>A
ENST00000562120.1:n.79C>A
ENST00000566380.5:c.309C>A
ENST00000568513.5:c.173+144C>A
NM_002528.5:c.370C>A	NP_002519.1:p.Pro124Thr
XM_011522505.1:c.370C>A	XP_011520807.1:p.Pro124Thr
NM_001318193.1:c.370C>A	NP_001305122.1:p.Pro124Thr
NM_001318194.1:c.24+144C>A	NP_001305123.1:n.24+144C>A
NM_002528.6:c.370C>A	NP_002519.1:p.Pro124Thr
XM_017023253.1:c.370C>A	XP_016878742.1:p.Pro124Thr
NM_001318193.2:c.346C>A	NP_001305122.2:p.Pro116Thr
NM_002528.7:c.346C>A MANE Select	NP_002519.2:p.Pro116Thr
NM_001318194.2:c.24+144C>A	NP_001305123.1:n.24+144C>A