Canonical Allele Identifier: CA7828182

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2043600T>C , CM000678.2:g.2043600T>C	GRCh38
NC_000016.9:g.2093601T>C , CM000678.1:g.2093601T>C	GRCh37
NC_000016.8:g.2033602T>C	NCBI36
NG_008412.1:g.9267A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.652A>G MANE Select	NP_002519.2:p.Met218Val
ENST00000651570.2:c.652A>G MANE Select	ENSP00000498421.1:p.Met218Val
NM_001318193.1:c.505A>G	NP_001305122.1:p.Met169Val
NM_001318193.2:c.481A>G	NP_001305122.2:p.Met161Val
NM_001318194.1:c.322A>G	NP_001305123.1:p.Met108Val
NM_001318194.2:c.322A>G	NP_001305123.1:p.Met108Val
NM_002528.5:c.676A>G	NP_002519.1:p.Met226Val
NM_002528.6:c.676A>G	NP_002519.1:p.Met226Val
ENST00000219066.5:c.676A>G	ENSP00000219066.1:p.Met226Val
ENST00000561841.1:c.572A>G
ENST00000562120.1:n.385A>G
ENST00000562951.5:n.157A>G
ENST00000565406.5:n.324A>G
ENST00000566380.5:c.444A>G
ENST00000567727.5:n.204A>G
ENST00000568513.5:c.471A>G
ENST00000651522.1:c.361A>G	ENSP00000498290.1:p.Met121Val
ENST00000651583.1:c.436A>G	ENSP00000498821.1:p.Met146Val
XM_011522505.1:c.505A>G	XP_011520807.1:p.Met169Val
XM_017023253.1:c.676A>G	XP_016878742.1:p.Met226Val