Canonical Allele Identifier: CA2201986627

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046179A= , CM000678.2:g.2046179A=	GRCh38
NC_000016.9:g.2096180A= , CM000678.1:g.2096180A=	GRCh37
NC_000016.8:g.2036181A=	NCBI36
NG_005895.1:g.1874A= , LRG_487:g.1874A=
NG_008412.1:g.6688T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651522.1:c.12T=	ENSP00000498290.1:p.Pro4=
ENST00000651570.2:c.303T= MANE Select	ENSP00000498421.1:p.Pro101=
ENST00000651583.1:c.258T=	ENSP00000498821.1:p.Pro86=
ENST00000219066.5:c.327T=	ENSP00000219066.1:p.Pro109=
ENST00000561841.1:c.223T=
ENST00000562120.1:n.36T=
ENST00000566380.5:c.266T=
ENST00000568513.5:c.173+101T=
NM_002528.5:c.327T=	NP_002519.1:p.Pro109=
XM_011522505.1:c.327T=	XP_011520807.1:p.Pro109=
NM_001318193.1:c.327T=	NP_001305122.1:p.Pro109=
NM_001318194.1:c.24+101T=	NP_001305123.1:n.24+101T=
NM_002528.6:c.327T=	NP_002519.1:p.Pro109=
XM_017023253.1:c.327T=	XP_016878742.1:p.Pro109=
NM_001318193.2:c.303T=	NP_001305122.2:p.Pro101=
NM_002528.7:c.303T= MANE Select	NP_002519.2:p.Pro101=
NM_001318194.2:c.24+101T=	NP_001305123.1:n.24+101T=