Canonical Allele Identifier: CA394291280

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2043618T>G , CM000678.2:g.2043618T>G	GRCh38
NC_000016.9:g.2093619T>G , CM000678.1:g.2093619T>G	GRCh37
NC_000016.8:g.2033620T>G	NCBI36
NG_008412.1:g.9249A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.634A>C MANE Select	NP_002519.2:p.Lys212Gln
ENST00000651570.2:c.634A>C MANE Select	ENSP00000498421.1:p.Lys212Gln
NM_001318193.1:c.487A>C	NP_001305122.1:p.Lys163Gln
NM_001318193.2:c.463A>C	NP_001305122.2:p.Lys155Gln
NM_001318194.1:c.304A>C	NP_001305123.1:p.Lys102Gln
NM_001318194.2:c.304A>C	NP_001305123.1:p.Lys102Gln
NM_002528.5:c.658A>C	NP_002519.1:p.Lys220Gln
NM_002528.6:c.658A>C	NP_002519.1:p.Lys220Gln
ENST00000219066.5:c.658A>C	ENSP00000219066.1:p.Lys220Gln
ENST00000561841.1:c.554A>C
ENST00000562120.1:n.367A>C
ENST00000562951.5:n.139A>C
ENST00000565406.5:n.306A>C
ENST00000566380.5:c.426A>C
ENST00000567727.5:n.186A>C
ENST00000568513.5:c.453A>C
ENST00000651522.1:c.343A>C	ENSP00000498290.1:p.Lys115Gln
ENST00000651583.1:c.418A>C	ENSP00000498821.1:p.Lys140Gln
XM_011522505.1:c.487A>C	XP_011520807.1:p.Lys163Gln
XM_017023253.1:c.658A>C	XP_016878742.1:p.Lys220Gln