Canonical Allele Identifier: CA394295281

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 823809
• ClinVar RCV Id: RCV001020379 ; RCV001037264
• dbSNP Id: rs1596222596
• gnomAD v4: 16-2046160-C-T
• MyVariant Identifiers: chr16:g.2096161C>T (hg19) ; chr16:g.2046160C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046160C>T , CM000678.2:g.2046160C>T	GRCh38
NC_000016.9:g.2096161C>T , CM000678.1:g.2096161C>T	GRCh37
NC_000016.8:g.2036162C>T	NCBI36
NG_005895.1:g.1855C>T , LRG_487:g.1855C>T
NG_008412.1:g.6707G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000651522.1:c.31G>A	ENSP00000498290.1:p.Glu11Lys
ENST00000651570.2:c.322G>A MANE Select	ENSP00000498421.1:p.Glu108Lys
ENST00000651583.1:c.277G>A	ENSP00000498821.1:p.Glu93Lys
ENST00000219066.5:c.346G>A	ENSP00000219066.1:p.Glu116Lys
ENST00000561841.1:c.242G>A
ENST00000562120.1:n.55G>A
ENST00000566380.5:c.285G>A
ENST00000568513.5:c.173+120G>A
NM_002528.5:c.346G>A	NP_002519.1:p.Glu116Lys
XM_011522505.1:c.346G>A	XP_011520807.1:p.Glu116Lys
NM_001318193.1:c.346G>A	NP_001305122.1:p.Glu116Lys
NM_001318194.1:c.24+120G>A	NP_001305123.1:n.24+120G>A
NM_002528.6:c.346G>A	NP_002519.1:p.Glu116Lys
XM_017023253.1:c.346G>A	XP_016878742.1:p.Glu116Lys
NM_001318193.2:c.322G>A	NP_001305122.2:p.Glu108Lys
NM_002528.7:c.322G>A MANE Select	NP_002519.2:p.Glu108Lys
NM_001318194.2:c.24+120G>A	NP_001305123.1:n.24+120G>A