Canonical Allele Identifier: CA394295013

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046126A>G , CM000678.2:g.2046126A>G	GRCh38
NC_000016.9:g.2096127A>G , CM000678.1:g.2096127A>G	GRCh37
NC_000016.8:g.2036128A>G	NCBI36
NG_005895.1:g.1821A>G , LRG_487:g.1821A>G
NG_008412.1:g.6741T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.354+2T>C MANE Select	NP_002519.2:n.354+2T>C
ENST00000651570.2:c.354+2T>C MANE Select	ENSP00000498421.1:n.354+2T>C
NM_001318193.1:c.378+2T>C	NP_001305122.1:n.378+2T>C
NM_001318193.2:c.354+2T>C	NP_001305122.2:n.354+2T>C
NM_001318194.1:c.24+154T>C	NP_001305123.1:n.24+154T>C
NM_001318194.2:c.24+154T>C	NP_001305123.1:n.24+154T>C
NM_002528.5:c.378+2T>C	NP_002519.1:n.378+2T>C
NM_002528.6:c.378+2T>C	NP_002519.1:n.378+2T>C
ENST00000219066.5:c.378+2T>C	ENSP00000219066.1:n.378+2T>C
ENST00000561841.1:c.274+2T>C
ENST00000562120.1:n.87+2T>C
ENST00000566380.5:c.317+2T>C
ENST00000568513.5:c.173+154T>C
ENST00000651522.1:c.63+2T>C	ENSP00000498290.1:n.63+2T>C
ENST00000651583.1:c.309+2T>C	ENSP00000498821.1:n.309+2T>C
XM_011522505.1:c.378+2T>C	XP_011520807.1:n.378+2T>C
XM_017023253.1:c.378+2T>C	XP_016878742.1:n.378+2T>C