Canonical Allele Identifier: CA2201986803

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046257C= , CM000678.2:g.2046257C=	GRCh38
NC_000016.9:g.2096258C= , CM000678.1:g.2096258C=	GRCh37
NC_000016.8:g.2036259C=	NCBI36
NG_005895.1:g.1952C= , LRG_487:g.1952C=
NG_008412.1:g.6610G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.225G= MANE Select	ENSP00000498421.1:p.Lys75=
ENST00000651583.1:c.180G=	ENSP00000498821.1:p.Lys60=
ENST00000219066.5:c.249G=	ENSP00000219066.1:p.Lys83=
ENST00000561841.1:c.145G=
ENST00000566380.5:c.188G=
ENST00000568513.5:c.173+23G=
NM_002528.5:c.249G=	NP_002519.1:p.Lys83=
XM_011522505.1:c.249G=	XP_011520807.1:p.Lys83=
NM_001318193.1:c.249G=	NP_001305122.1:p.Lys83=
NM_001318194.1:c.24+23G=	NP_001305123.1:n.24+23G=
NM_002528.6:c.249G=	NP_002519.1:p.Lys83=
XM_017023253.1:c.249G=	XP_016878742.1:p.Lys83=
NM_001318193.2:c.225G=	NP_001305122.2:p.Lys75=
NM_002528.7:c.225G= MANE Select	NP_002519.2:p.Lys75=
NM_001318194.2:c.24+23G=	NP_001305123.1:n.24+23G=