Canonical Allele Identifier: CA394290982

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2043591C>A , CM000678.2:g.2043591C>A	GRCh38
NC_000016.9:g.2093592C>A , CM000678.1:g.2093592C>A	GRCh37
NC_000016.8:g.2033593C>A	NCBI36
NG_008412.1:g.9276G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.661G>T MANE Select	NP_002519.2:p.Ala221Ser
ENST00000651570.2:c.661G>T MANE Select	ENSP00000498421.1:p.Ala221Ser
NM_001318193.1:c.514G>T	NP_001305122.1:p.Ala172Ser
NM_001318193.2:c.490G>T	NP_001305122.2:p.Ala164Ser
NM_001318194.1:c.331G>T	NP_001305123.1:p.Ala111Ser
NM_001318194.2:c.331G>T	NP_001305123.1:p.Ala111Ser
NM_002528.5:c.685G>T	NP_002519.1:p.Ala229Ser
NM_002528.6:c.685G>T	NP_002519.1:p.Ala229Ser
ENST00000219066.5:c.685G>T	ENSP00000219066.1:p.Ala229Ser
ENST00000561841.1:c.581G>T
ENST00000562120.1:n.394G>T
ENST00000562951.5:n.166G>T
ENST00000565406.5:n.333G>T
ENST00000566380.5:c.453G>T
ENST00000567727.5:n.213G>T
ENST00000568513.5:c.480G>T
ENST00000651522.1:c.370G>T	ENSP00000498290.1:p.Ala124Ser
ENST00000651583.1:c.445G>T	ENSP00000498821.1:p.Ala149Ser
XM_011522505.1:c.514G>T	XP_011520807.1:p.Ala172Ser
XM_017023253.1:c.685G>T	XP_016878742.1:p.Ala229Ser