Canonical Allele Identifier: CA394297618

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046283T>G , CM000678.2:g.2046283T>G	GRCh38
NC_000016.9:g.2096284T>G , CM000678.1:g.2096284T>G	GRCh37
NC_000016.8:g.2036285T>G	NCBI36
NG_005895.1:g.1978T>G , LRG_487:g.1978T>G
NG_008412.1:g.6584A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.199A>C MANE Select	NP_002519.2:p.Lys67Gln
ENST00000651570.2:c.199A>C MANE Select	ENSP00000498421.1:p.Lys67Gln
NM_001318193.1:c.223A>C	NP_001305122.1:p.Lys75Gln
NM_001318193.2:c.199A>C	NP_001305122.2:p.Lys67Gln
NM_001318194.1:c.21A>C	NP_001305123.1:p.Arg7Ser
NM_001318194.2:c.21A>C	NP_001305123.1:p.Arg7Ser
NM_002528.5:c.223A>C	NP_002519.1:p.Lys75Gln
NM_002528.6:c.223A>C	NP_002519.1:p.Lys75Gln
ENST00000219066.5:c.223A>C	ENSP00000219066.1:p.Lys75Gln
ENST00000561841.1:c.119A>C
ENST00000566380.5:c.162A>C
ENST00000568513.5:c.170A>C
ENST00000651583.1:c.154A>C	ENSP00000498821.1:p.Lys52Gln
XM_011522505.1:c.223A>C	XP_011520807.1:p.Lys75Gln
XM_017023253.1:c.223A>C	XP_016878742.1:p.Lys75Gln