Canonical Allele Identifier: CA394292091

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2043684G>A , CM000678.2:g.2043684G>A	GRCh38
NC_000016.9:g.2093685G>A , CM000678.1:g.2093685G>A	GRCh37
NC_000016.8:g.2033686G>A	NCBI36
NG_008412.1:g.9183C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.568C>T MANE Select	NP_002519.2:p.Gln190Ter
ENST00000651570.2:c.568C>T MANE Select	ENSP00000498421.1:p.Gln190Ter
NM_001318193.1:c.421C>T	NP_001305122.1:p.Gln141Ter
NM_001318193.2:c.397C>T	NP_001305122.2:p.Gln133Ter
NM_001318194.1:c.238C>T	NP_001305123.1:p.Gln80Ter
NM_001318194.2:c.238C>T	NP_001305123.1:p.Gln80Ter
NM_002528.5:c.592C>T	NP_002519.1:p.Gln198Ter
NM_002528.6:c.592C>T	NP_002519.1:p.Gln198Ter
ENST00000219066.5:c.592C>T	ENSP00000219066.1:p.Gln198Ter
ENST00000561841.1:c.488C>T
ENST00000562120.1:n.301C>T
ENST00000562951.5:n.73C>T
ENST00000565406.5:n.240C>T
ENST00000566380.5:c.360C>T
ENST00000567727.5:n.120C>T
ENST00000568513.5:c.387C>T
ENST00000651522.1:c.277C>T	ENSP00000498290.1:p.Gln93Ter
ENST00000651583.1:c.352C>T	ENSP00000498821.1:p.Gln118Ter
XM_011522505.1:c.421C>T	XP_011520807.1:p.Gln141Ter
XM_017023253.1:c.592C>T	XP_016878742.1:p.Gln198Ter