Canonical Allele Identifier: CA394298124

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046367C>T , CM000678.2:g.2046367C>T	GRCh38
NC_000016.9:g.2096368C>T , CM000678.1:g.2096368C>T	GRCh37
NC_000016.8:g.2036369C>T	NCBI36
NG_005895.1:g.2062C>T , LRG_487:g.2062C>T
NG_008412.1:g.6500G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.116-1G>A MANE Select	NP_002519.2:n.116-1G>A
ENST00000651570.2:c.116-1G>A MANE Select	ENSP00000498421.1:n.116-1G>A
NM_001318193.1:c.140-1G>A	NP_001305122.1:n.140-1G>A
NM_001318193.2:c.116-1G>A	NP_001305122.2:n.116-1G>A
NM_001318194.1:c.-63-1G>A	NP_001305123.1:n.-63-1G>A
NM_001318194.2:c.-63-1G>A	NP_001305123.1:n.-63-1G>A
NM_002528.5:c.140-1G>A	NP_002519.1:n.140-1G>A
NM_002528.6:c.140-1G>A	NP_002519.1:n.140-1G>A
ENST00000219066.5:c.140-1G>A	ENSP00000219066.1:n.140-1G>A
ENST00000561841.1:c.36-1G>A
ENST00000566380.5:c.79-1G>A
ENST00000568513.5:c.87-1G>A
ENST00000651583.1:c.71-1G>A	ENSP00000498821.1:n.71-1G>A
XM_011522505.1:c.140-1G>A	XP_011520807.1:n.140-1G>A
XM_017023253.1:c.140-1G>A	XP_016878742.1:n.140-1G>A