Canonical Allele Identifier: CA7828067

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2039943G>A , CM000678.2:g.2039943G>A	GRCh38
NC_000016.9:g.2089944G>A , CM000678.1:g.2089944G>A	GRCh37
NC_000016.8:g.2029945G>A	NCBI36
NG_008412.1:g.12924C>T
NG_047104.1:g.18076G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.896C>T MANE Select	NP_002519.2:p.Pro299Leu
ENST00000651570.2:c.896C>T MANE Select	ENSP00000498421.1:p.Pro299Leu
NM_001318193.1:c.749C>T	NP_001305122.1:p.Pro250Leu
NM_001318193.2:c.725C>T	NP_001305122.2:p.Pro242Leu
NM_001318194.1:c.566C>T	NP_001305123.1:p.Pro189Leu
NM_001318194.2:c.566C>T	NP_001305123.1:p.Pro189Leu
NM_002528.5:c.920C>T	NP_002519.1:p.Pro307Leu
NM_002528.6:c.920C>T	NP_002519.1:p.Pro307Leu
ENST00000219066.5:c.920C>T	ENSP00000219066.1:p.Pro307Leu
ENST00000561841.1:c.961C>T
ENST00000561862.5:n.441C>T
ENST00000562951.5:n.401C>T
ENST00000565406.5:n.568C>T
ENST00000566380.5:c.691C>T
ENST00000567727.5:n.448C>T
ENST00000568513.5:c.715C>T
ENST00000651522.1:c.608C>T	ENSP00000498290.1:p.Pro203Leu
ENST00000651583.1:c.680C>T	ENSP00000498821.1:p.Pro227Leu
XM_011522505.1:c.749C>T	XP_011520807.1:p.Pro250Leu
XM_017023253.1:c.1005C>T	XP_016878742.1:p.Pro335=