Canonical Allele Identifier: CA394298008

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 649171
• ClinVar RCV Id: RCV000804043 ; RCV002255529 ; RCV003947993
• dbSNP Id: rs1210160367
• gnomAD v2: 16-2096344-C-T
• gnomAD v3: 16-2046343-C-T
• gnomAD v4: 16-2046343-C-T
• MyVariant Identifiers: chr16:g.2096344C>T (hg19) ; chr16:g.2046343C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046343C>T , CM000678.2:g.2046343C>T	GRCh38
NC_000016.9:g.2096344C>T , CM000678.1:g.2096344C>T	GRCh37
NC_000016.8:g.2036345C>T	NCBI36
NG_005895.1:g.2038C>T , LRG_487:g.2038C>T
NG_008412.1:g.6524G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.139G>A MANE Select	ENSP00000498421.1:p.Val47Met
ENST00000651583.1:c.94G>A	ENSP00000498821.1:p.Val32Met
ENST00000219066.5:c.163G>A	ENSP00000219066.1:p.Val55Met
ENST00000561841.1:c.59G>A
ENST00000566380.5:c.102G>A
ENST00000568513.5:c.110G>A
NM_002528.5:c.163G>A	NP_002519.1:p.Val55Met
XM_011522505.1:c.163G>A	XP_011520807.1:p.Val55Met
NM_001318193.1:c.163G>A	NP_001305122.1:p.Val55Met
NM_001318194.1:c.-40G>A	NP_001305123.1:n.-40G>A
NM_002528.6:c.163G>A	NP_002519.1:p.Val55Met
XM_017023253.1:c.163G>A	XP_016878742.1:p.Val55Met
NM_001318193.2:c.139G>A	NP_001305122.2:p.Val47Met
NM_002528.7:c.139G>A MANE Select	NP_002519.2:p.Val47Met
NM_001318194.2:c.-40G>A	NP_001305123.1:n.-40G>A