Canonical Allele Identifier: CA394296784

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 1799013
• ClinVar RCV Id: RCV002435984 ; RCV003102989
• dbSNP Id: rs2150945760
• gnomAD v4: 16-2046204-G-A
• MyVariant Identifiers: chr16:g.2096205G>A (hg19) ; chr16:g.2046204G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046204G>A , CM000678.2:g.2046204G>A	GRCh38
NC_000016.9:g.2096205G>A , CM000678.1:g.2096205G>A	GRCh37
NC_000016.8:g.2036206G>A	NCBI36
NG_005895.1:g.1899G>A , LRG_487:g.1899G>A
NG_008412.1:g.6663C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.278C>T MANE Select	ENSP00000498421.1:p.Ala93Val
ENST00000651583.1:c.233C>T	ENSP00000498821.1:p.Ala78Val
ENST00000219066.5:c.302C>T	ENSP00000219066.1:p.Ala101Val
ENST00000561841.1:c.198C>T
ENST00000562120.1:n.11C>T
ENST00000566380.5:c.241C>T
ENST00000568513.5:c.173+76C>T
NM_002528.5:c.302C>T	NP_002519.1:p.Ala101Val
XM_011522505.1:c.302C>T	XP_011520807.1:p.Ala101Val
NM_001318193.1:c.302C>T	NP_001305122.1:p.Ala101Val
NM_001318194.1:c.24+76C>T	NP_001305123.1:n.24+76C>T
NM_002528.6:c.302C>T	NP_002519.1:p.Ala101Val
XM_017023253.1:c.302C>T	XP_016878742.1:p.Ala101Val
NM_001318193.2:c.278C>T	NP_001305122.2:p.Ala93Val
NM_002528.7:c.278C>T MANE Select	NP_002519.2:p.Ala93Val
NM_001318194.2:c.24+76C>T	NP_001305123.1:n.24+76C>T