Canonical Allele Identifier: CA394294820

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2044800C>G , CM000678.2:g.2044800C>G	GRCh38
NC_000016.9:g.2094801C>G , CM000678.1:g.2094801C>G	GRCh37
NC_000016.8:g.2034802C>G	NCBI36
NG_005895.1:g.495C>G , LRG_487:g.495C>G
NG_008412.1:g.8067G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651522.1:c.64G>C	ENSP00000498290.1:p.Val22Leu
ENST00000651570.2:c.355G>C MANE Select	ENSP00000498421.1:p.Val119Leu
ENST00000651583.1:c.310-1074G>C	ENSP00000498821.1:n.310-1074G>C
ENST00000219066.5:c.379G>C	ENSP00000219066.1:p.Val127Leu
ENST00000561841.1:c.275G>C
ENST00000562120.1:n.88G>C
ENST00000565406.5:n.27G>C
ENST00000566380.5:c.318-1074G>C
ENST00000568513.5:c.174G>C
NM_002528.5:c.379G>C	NP_002519.1:p.Val127Leu
XM_011522505.1:c.379-1074G>C	XP_011520807.1:n.379-1074G>C
NM_001318193.1:c.379-1074G>C	NP_001305122.1:n.379-1074G>C
NM_001318194.1:c.25G>C	NP_001305123.1:p.Val9Leu
NM_002528.6:c.379G>C	NP_002519.1:p.Val127Leu
XM_017023253.1:c.379G>C	XP_016878742.1:p.Val127Leu
NM_001318193.2:c.355-1074G>C	NP_001305122.2:n.355-1074G>C
NM_002528.7:c.355G>C MANE Select	NP_002519.2:p.Val119Leu
NM_001318194.2:c.25G>C	NP_001305123.1:p.Val9Leu