Canonical Allele Identifier: CA394297390

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 3222665
• ClinVar RCV Id: RCV004516049
• gnomAD v4: 16-2046259-T-G
• MyVariant Identifiers: chr16:g.2096260T>G (hg19) ; chr16:g.2046259T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046259T>G , CM000678.2:g.2046259T>G	GRCh38
NC_000016.9:g.2096260T>G , CM000678.1:g.2096260T>G	GRCh37
NC_000016.8:g.2036261T>G	NCBI36
NG_005895.1:g.1954T>G , LRG_487:g.1954T>G
NG_008412.1:g.6608A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.223A>C MANE Select	ENSP00000498421.1:p.Lys75Gln
ENST00000651583.1:c.178A>C	ENSP00000498821.1:p.Lys60Gln
ENST00000219066.5:c.247A>C	ENSP00000219066.1:p.Lys83Gln
ENST00000561841.1:c.143A>C
ENST00000566380.5:c.186A>C
ENST00000568513.5:c.173+21A>C
NM_002528.5:c.247A>C	NP_002519.1:p.Lys83Gln
XM_011522505.1:c.247A>C	XP_011520807.1:p.Lys83Gln
NM_001318193.1:c.247A>C	NP_001305122.1:p.Lys83Gln
NM_001318194.1:c.24+21A>C	NP_001305123.1:n.24+21A>C
NM_002528.6:c.247A>C	NP_002519.1:p.Lys83Gln
XM_017023253.1:c.247A>C	XP_016878742.1:p.Lys83Gln
NM_001318193.2:c.223A>C	NP_001305122.2:p.Lys75Gln
NM_002528.7:c.223A>C MANE Select	NP_002519.2:p.Lys75Gln
NM_001318194.2:c.24+21A>C	NP_001305123.1:n.24+21A>C