Canonical Allele Identifier: CA2201986682

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046209G= , CM000678.2:g.2046209G=	GRCh38
NC_000016.9:g.2096210G= , CM000678.1:g.2096210G=	GRCh37
NC_000016.8:g.2036211G=	NCBI36
NG_005895.1:g.1904G= , LRG_487:g.1904G=
NG_008412.1:g.6658C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.273C= MANE Select	ENSP00000498421.1:p.Ile91=
ENST00000651583.1:c.228C=	ENSP00000498821.1:p.Ile76=
ENST00000219066.5:c.297C=	ENSP00000219066.1:p.Ile99=
ENST00000561841.1:c.193C=
ENST00000562120.1:n.6C=
ENST00000566380.5:c.236C=
ENST00000568513.5:c.173+71C=
NM_002528.5:c.297C=	NP_002519.1:p.Ile99=
XM_011522505.1:c.297C=	XP_011520807.1:p.Ile99=
NM_001318193.1:c.297C=	NP_001305122.1:p.Ile99=
NM_001318194.1:c.24+71C=	NP_001305123.1:n.24+71C=
NM_002528.6:c.297C=	NP_002519.1:p.Ile99=
XM_017023253.1:c.297C=	XP_016878742.1:p.Ile99=
NM_001318193.2:c.273C=	NP_001305122.2:p.Ile91=
NM_002528.7:c.273C= MANE Select	NP_002519.2:p.Ile91=
NM_001318194.2:c.24+71C=	NP_001305123.1:n.24+71C=