Canonical Allele Identifier: CA394295714

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 1521137
• ClinVar RCV Id: RCV002046245
• dbSNP Id: rs1276674075
• MyVariant Identifiers: chr16:g.2096201C>T (hg19) ; chr16:g.2046200C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046200C>T , CM000678.2:g.2046200C>T	GRCh38
NC_000016.9:g.2096201C>T , CM000678.1:g.2096201C>T	GRCh37
NC_000016.8:g.2036202C>T	NCBI36
NG_005895.1:g.1895C>T , LRG_487:g.1895C>T
NG_008412.1:g.6667G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.282G>A MANE Select	ENSP00000498421.1:p.Met94Ile
ENST00000651583.1:c.237G>A	ENSP00000498821.1:p.Met79Ile
ENST00000219066.5:c.306G>A	ENSP00000219066.1:p.Met102Ile
ENST00000561841.1:c.202G>A
ENST00000562120.1:n.15G>A
ENST00000566380.5:c.245G>A
ENST00000568513.5:c.173+80G>A
NM_002528.5:c.306G>A	NP_002519.1:p.Met102Ile
XM_011522505.1:c.306G>A	XP_011520807.1:p.Met102Ile
NM_001318193.1:c.306G>A	NP_001305122.1:p.Met102Ile
NM_001318194.1:c.24+80G>A	NP_001305123.1:n.24+80G>A
NM_002528.6:c.306G>A	NP_002519.1:p.Met102Ile
XM_017023253.1:c.306G>A	XP_016878742.1:p.Met102Ile
NM_001318193.2:c.282G>A	NP_001305122.2:p.Met94Ile
NM_002528.7:c.282G>A MANE Select	NP_002519.2:p.Met94Ile
NM_001318194.2:c.24+80G>A	NP_001305123.1:n.24+80G>A