Canonical Allele Identifier: CA2201986576

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046142T= , CM000678.2:g.2046142T=	GRCh38
NC_000016.9:g.2096143T= , CM000678.1:g.2096143T=	GRCh37
NC_000016.8:g.2036144T=	NCBI36
NG_005895.1:g.1837T= , LRG_487:g.1837T=
NG_008412.1:g.6725A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651522.1:c.49A=	ENSP00000498290.1:p.Ser17=
ENST00000651570.2:c.340A= MANE Select	ENSP00000498421.1:p.Ser114=
ENST00000651583.1:c.295A=	ENSP00000498821.1:p.Ser99=
ENST00000219066.5:c.364A=	ENSP00000219066.1:p.Ser122=
ENST00000561841.1:c.260A=
ENST00000562120.1:n.73A=
ENST00000566380.5:c.303A=
ENST00000568513.5:c.173+138A=
NM_002528.5:c.364A=	NP_002519.1:p.Ser122=
XM_011522505.1:c.364A=	XP_011520807.1:p.Ser122=
NM_001318193.1:c.364A=	NP_001305122.1:p.Ser122=
NM_001318194.1:c.24+138A=	NP_001305123.1:n.24+138A=
NM_002528.6:c.364A=	NP_002519.1:p.Ser122=
XM_017023253.1:c.364A=	XP_016878742.1:p.Ser122=
NM_001318193.2:c.340A=	NP_001305122.2:p.Ser114=
NM_002528.7:c.340A= MANE Select	NP_002519.2:p.Ser114=
NM_001318194.2:c.24+138A=	NP_001305123.1:n.24+138A=