Canonical Allele Identifier: CA492952215

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2043688C>T , CM000678.2:g.2043688C>T	GRCh38
NC_000016.9:g.2093689C>T , CM000678.1:g.2093689C>T	GRCh37
NC_000016.8:g.2033690C>T	NCBI36
NG_008412.1:g.9179G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651522.1:c.273G>A	ENSP00000498290.1:p.Leu91=
ENST00000651570.2:c.564G>A MANE Select	ENSP00000498421.1:p.Leu188=
ENST00000651583.1:c.348G>A	ENSP00000498821.1:p.Leu116=
ENST00000219066.5:c.588G>A	ENSP00000219066.1:p.Leu196=
ENST00000561841.1:c.484G>A
ENST00000562120.1:n.297G>A
ENST00000562951.5:n.69G>A
ENST00000565406.5:n.236G>A
ENST00000566380.5:c.356G>A
ENST00000567727.5:n.116G>A
ENST00000568513.5:c.383G>A
NM_002528.5:c.588G>A	NP_002519.1:p.Leu196=
XM_011522505.1:c.417G>A	XP_011520807.1:p.Leu139=
NM_001318193.1:c.417G>A	NP_001305122.1:p.Leu139=
NM_001318194.1:c.234G>A	NP_001305123.1:p.Leu78=
NM_002528.6:c.588G>A	NP_002519.1:p.Leu196=
XM_017023253.1:c.588G>A	XP_016878742.1:p.Leu196=
NM_001318193.2:c.393G>A	NP_001305122.2:p.Leu131=
NM_002528.7:c.564G>A MANE Select	NP_002519.2:p.Leu188=
NM_001318194.2:c.234G>A	NP_001305123.1:p.Leu78=