Canonical Allele Identifier: CA394296901

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 860374
• ClinVar RCV Id: RCV001066658 ; RCV002256676 ; RCV002268429
• dbSNP Id: rs1442043769
• gnomAD v3: 16-2046213-T-C
• gnomAD v4: 16-2046213-T-C
• MyVariant Identifiers: chr16:g.2096214T>C (hg19) ; chr16:g.2046213T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046213T>C , CM000678.2:g.2046213T>C	GRCh38
NC_000016.9:g.2096214T>C , CM000678.1:g.2096214T>C	GRCh37
NC_000016.8:g.2036215T>C	NCBI36
NG_005895.1:g.1908T>C , LRG_487:g.1908T>C
NG_008412.1:g.6654A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.269A>G MANE Select	ENSP00000498421.1:p.Asn90Ser
ENST00000651583.1:c.224A>G	ENSP00000498821.1:p.Asn75Ser
ENST00000219066.5:c.293A>G	ENSP00000219066.1:p.Asn98Ser
ENST00000561841.1:c.189A>G
ENST00000562120.1:n.2A>G
ENST00000566380.5:c.232A>G
ENST00000568513.5:c.173+67A>G
NM_002528.5:c.293A>G	NP_002519.1:p.Asn98Ser
XM_011522505.1:c.293A>G	XP_011520807.1:p.Asn98Ser
NM_001318193.1:c.293A>G	NP_001305122.1:p.Asn98Ser
NM_001318194.1:c.24+67A>G	NP_001305123.1:n.24+67A>G
NM_002528.6:c.293A>G	NP_002519.1:p.Asn98Ser
XM_017023253.1:c.293A>G	XP_016878742.1:p.Asn98Ser
NM_001318193.2:c.269A>G	NP_001305122.2:p.Asn90Ser
NM_002528.7:c.269A>G MANE Select	NP_002519.2:p.Asn90Ser
NM_001318194.2:c.24+67A>G	NP_001305123.1:n.24+67A>G