Canonical Allele Identifier: CA394289224

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2040211G>A , CM000678.2:g.2040211G>A	GRCh38
NC_000016.9:g.2090212G>A , CM000678.1:g.2090212G>A	GRCh37
NC_000016.8:g.2030213G>A	NCBI36
NG_008412.1:g.12656C>T
NG_047104.1:g.18344G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.713C>T MANE Select	NP_002519.2:p.Ala238Val
ENST00000651570.2:c.713C>T MANE Select	ENSP00000498421.1:p.Ala238Val
NM_001318193.1:c.566C>T	NP_001305122.1:p.Ala189Val
NM_001318193.2:c.542C>T	NP_001305122.2:p.Ala181Val
NM_001318194.1:c.383C>T	NP_001305123.1:p.Ala128Val
NM_001318194.2:c.383C>T	NP_001305123.1:p.Ala128Val
NM_002528.5:c.737C>T	NP_002519.1:p.Ala246Val
NM_002528.6:c.737C>T	NP_002519.1:p.Ala246Val
ENST00000219066.5:c.737C>T	ENSP00000219066.1:p.Ala246Val
ENST00000561841.1:c.778C>T
ENST00000561862.5:n.258C>T
ENST00000562951.5:n.218C>T
ENST00000565406.5:n.385C>T
ENST00000566380.5:c.508C>T
ENST00000567727.5:n.265C>T
ENST00000568513.5:c.532C>T
ENST00000651522.1:c.425C>T	ENSP00000498290.1:p.Ala142Val
ENST00000651583.1:c.497C>T	ENSP00000498821.1:p.Ala166Val
XM_011522505.1:c.566C>T	XP_011520807.1:p.Ala189Val
XM_017023253.1:c.737C>T	XP_016878742.1:p.Ala246Val