Canonical Allele Identifier: CA492952993

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2044753G>C , CM000678.2:g.2044753G>C	GRCh38
NC_000016.9:g.2094754G>C , CM000678.1:g.2094754G>C	GRCh37
NC_000016.8:g.2034755G>C	NCBI36
NG_005895.1:g.448G>C , LRG_487:g.448G>C
NG_008412.1:g.8114C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651522.1:c.111C>G	ENSP00000498290.1:p.Thr37=
ENST00000651570.2:c.402C>G MANE Select	ENSP00000498421.1:p.Thr134=
ENST00000651583.1:c.310-1027C>G	ENSP00000498821.1:n.310-1027C>G
ENST00000219066.5:c.426C>G	ENSP00000219066.1:p.Thr142=
ENST00000561841.1:c.322C>G
ENST00000562120.1:n.135C>G
ENST00000565406.5:n.74C>G
ENST00000566380.5:c.318-1027C>G
ENST00000568513.5:c.221C>G
NM_002528.5:c.426C>G	NP_002519.1:p.Thr142=
XM_011522505.1:c.379-1027C>G	XP_011520807.1:n.379-1027C>G
NM_001318193.1:c.379-1027C>G	NP_001305122.1:n.379-1027C>G
NM_001318194.1:c.72C>G	NP_001305123.1:p.Thr24=
NM_002528.6:c.426C>G	NP_002519.1:p.Thr142=
XM_017023253.1:c.426C>G	XP_016878742.1:p.Thr142=
NM_001318193.2:c.355-1027C>G	NP_001305122.2:n.355-1027C>G
NM_002528.7:c.402C>G MANE Select	NP_002519.2:p.Thr134=
NM_001318194.2:c.72C>G	NP_001305123.1:p.Thr24=