Canonical Allele Identifier: CA2201986704

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046220G= , CM000678.2:g.2046220G=	GRCh38
NC_000016.9:g.2096221G= , CM000678.1:g.2096221G=	GRCh37
NC_000016.8:g.2036222G=	NCBI36
NG_005895.1:g.1915G= , LRG_487:g.1915G=
NG_008412.1:g.6647C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.262C= MANE Select	ENSP00000498421.1:p.Leu88=
ENST00000651583.1:c.217C=	ENSP00000498821.1:p.Leu73=
ENST00000219066.5:c.286C=	ENSP00000219066.1:p.Leu96=
ENST00000561841.1:c.182C=
ENST00000566380.5:c.225C=
ENST00000568513.5:c.173+60C=
NM_002528.5:c.286C=	NP_002519.1:p.Leu96=
XM_011522505.1:c.286C=	XP_011520807.1:p.Leu96=
NM_001318193.1:c.286C=	NP_001305122.1:p.Leu96=
NM_001318194.1:c.24+60C=	NP_001305123.1:n.24+60C=
NM_002528.6:c.286C=	NP_002519.1:p.Leu96=
XM_017023253.1:c.286C=	XP_016878742.1:p.Leu96=
NM_001318193.2:c.262C=	NP_001305122.2:p.Leu88=
NM_002528.7:c.262C= MANE Select	NP_002519.2:p.Leu88=
NM_001318194.2:c.24+60C=	NP_001305123.1:n.24+60C=