Canonical Allele Identifier: CA394297012

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 847230
• ClinVar RCV Id: RCV001050733 ; RCV002436601
• dbSNP Id: rs2084371504
• MyVariant Identifiers: chr16:g.2096221G>T (hg19) ; chr16:g.2046220G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046220G>T , CM000678.2:g.2046220G>T	GRCh38
NC_000016.9:g.2096221G>T , CM000678.1:g.2096221G>T	GRCh37
NC_000016.8:g.2036222G>T	NCBI36
NG_005895.1:g.1915G>T , LRG_487:g.1915G>T
NG_008412.1:g.6647C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.262C>A MANE Select	ENSP00000498421.1:p.Leu88Met
ENST00000651583.1:c.217C>A	ENSP00000498821.1:p.Leu73Met
ENST00000219066.5:c.286C>A	ENSP00000219066.1:p.Leu96Met
ENST00000561841.1:c.182C>A
ENST00000566380.5:c.225C>A
ENST00000568513.5:c.173+60C>A
NM_002528.5:c.286C>A	NP_002519.1:p.Leu96Met
XM_011522505.1:c.286C>A	XP_011520807.1:p.Leu96Met
NM_001318193.1:c.286C>A	NP_001305122.1:p.Leu96Met
NM_001318194.1:c.24+60C>A	NP_001305123.1:n.24+60C>A
NM_002528.6:c.286C>A	NP_002519.1:p.Leu96Met
XM_017023253.1:c.286C>A	XP_016878742.1:p.Leu96Met
NM_001318193.2:c.262C>A	NP_001305122.2:p.Leu88Met
NM_002528.7:c.262C>A MANE Select	NP_002519.2:p.Leu88Met
NM_001318194.2:c.24+60C>A	NP_001305123.1:n.24+60C>A