Canonical Allele Identifier: CA394288571

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2040131A>G , CM000678.2:g.2040131A>G	GRCh38
NC_000016.9:g.2090132A>G , CM000678.1:g.2090132A>G	GRCh37
NC_000016.8:g.2030133A>G	NCBI36
NG_008412.1:g.12736T>C
NG_047104.1:g.18264A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.791+2T>C MANE Select	NP_002519.2:n.791+2T>C
ENST00000651570.2:c.791+2T>C MANE Select	ENSP00000498421.1:n.791+2T>C
NM_001318193.1:c.644+2T>C	NP_001305122.1:n.644+2T>C
NM_001318193.2:c.620+2T>C	NP_001305122.2:n.620+2T>C
NM_001318194.1:c.461+2T>C	NP_001305123.1:n.461+2T>C
NM_001318194.2:c.461+2T>C	NP_001305123.1:n.461+2T>C
NM_002528.5:c.815+2T>C	NP_002519.1:n.815+2T>C
NM_002528.6:c.815+2T>C	NP_002519.1:n.815+2T>C
ENST00000219066.5:c.815+2T>C	ENSP00000219066.1:n.815+2T>C
ENST00000561841.1:c.856+2T>C
ENST00000561862.5:n.336+2T>C
ENST00000562951.5:n.296+2T>C
ENST00000565406.5:n.463+2T>C
ENST00000566380.5:c.586+2T>C
ENST00000567727.5:n.343+2T>C
ENST00000568513.5:c.610+2T>C
ENST00000651522.1:c.503+2T>C	ENSP00000498290.1:n.503+2T>C
ENST00000651583.1:c.575+2T>C	ENSP00000498821.1:n.575+2T>C
XM_011522505.1:c.644+2T>C	XP_011520807.1:n.644+2T>C
XM_017023253.1:c.817T>C	XP_016878742.1:p.Tyr273His