Canonical Allele Identifier: CA7828315

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 759538
• ClinVar RCV Id: RCV000937374 ; RCV001020986 ; RCV003895699
• dbSNP Id: rs145185932
• ExAC: 16:2096135 G / T
• gnomAD v2: 16-2096135-G-T
• gnomAD v3: 16-2046134-G-T
• gnomAD v4: 16-2046134-G-T
• MyVariant Identifiers: chr16:g.2096135G>T (hg19) ; chr16:g.2046134G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046134G>T , CM000678.2:g.2046134G>T	GRCh38
NC_000016.9:g.2096135G>T , CM000678.1:g.2096135G>T	GRCh37
NC_000016.8:g.2036136G>T	NCBI36
NG_005895.1:g.1829G>T , LRG_487:g.1829G>T
NG_008412.1:g.6733C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651522.1:c.57C>A	ENSP00000498290.1:p.Pro19=
ENST00000651570.2:c.348C>A MANE Select	ENSP00000498421.1:p.Pro116=
ENST00000651583.1:c.303C>A	ENSP00000498821.1:p.Pro101=
ENST00000219066.5:c.372C>A	ENSP00000219066.1:p.Pro124=
ENST00000561841.1:c.268C>A
ENST00000562120.1:n.81C>A
ENST00000566380.5:c.311C>A
ENST00000568513.5:c.173+146C>A
NM_002528.5:c.372C>A	NP_002519.1:p.Pro124=
XM_011522505.1:c.372C>A	XP_011520807.1:p.Pro124=
NM_001318193.1:c.372C>A	NP_001305122.1:p.Pro124=
NM_001318194.1:c.24+146C>A	NP_001305123.1:n.24+146C>A
NM_002528.6:c.372C>A	NP_002519.1:p.Pro124=
XM_017023253.1:c.372C>A	XP_016878742.1:p.Pro124=
NM_001318193.2:c.348C>A	NP_001305122.2:p.Pro116=
NM_002528.7:c.348C>A MANE Select	NP_002519.2:p.Pro116=
NM_001318194.2:c.24+146C>A	NP_001305123.1:n.24+146C>A