Canonical Allele Identifier: CA2201986560

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046137G= , CM000678.2:g.2046137G=	GRCh38
NC_000016.9:g.2096138G= , CM000678.1:g.2096138G=	GRCh37
NC_000016.8:g.2036139G=	NCBI36
NG_005895.1:g.1832G= , LRG_487:g.1832G=
NG_008412.1:g.6730C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651522.1:c.54C=	ENSP00000498290.1:p.Ala18=
ENST00000651570.2:c.345C= MANE Select	ENSP00000498421.1:p.Ala115=
ENST00000651583.1:c.300C=	ENSP00000498821.1:p.Ala100=
ENST00000219066.5:c.369C=	ENSP00000219066.1:p.Ala123=
ENST00000561841.1:c.265C=
ENST00000562120.1:n.78C=
ENST00000566380.5:c.308C=
ENST00000568513.5:c.173+143C=
NM_002528.5:c.369C=	NP_002519.1:p.Ala123=
XM_011522505.1:c.369C=	XP_011520807.1:p.Ala123=
NM_001318193.1:c.369C=	NP_001305122.1:p.Ala123=
NM_001318194.1:c.24+143C=	NP_001305123.1:n.24+143C=
NM_002528.6:c.369C=	NP_002519.1:p.Ala123=
XM_017023253.1:c.369C=	XP_016878742.1:p.Ala123=
NM_001318193.2:c.345C=	NP_001305122.2:p.Ala115=
NM_002528.7:c.345C= MANE Select	NP_002519.2:p.Ala115=
NM_001318194.2:c.24+143C=	NP_001305123.1:n.24+143C=