Canonical Allele Identifier: CA394294037

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2044628A>C , CM000678.2:g.2044628A>C	GRCh38
NC_000016.9:g.2094629A>C , CM000678.1:g.2094629A>C	GRCh37
NC_000016.8:g.2034630A>C	NCBI36
NG_005895.1:g.323A>C , LRG_487:g.323A>C
NG_008412.1:g.8239T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.525+2T>G MANE Select	NP_002519.2:n.525+2T>G
ENST00000651570.2:c.525+2T>G MANE Select	ENSP00000498421.1:n.525+2T>G
NM_001318193.1:c.379-902T>G	NP_001305122.1:n.379-902T>G
NM_001318193.2:c.355-902T>G	NP_001305122.2:n.355-902T>G
NM_001318194.1:c.195+2T>G	NP_001305123.1:n.195+2T>G
NM_001318194.2:c.195+2T>G	NP_001305123.1:n.195+2T>G
NM_002528.5:c.549+2T>G	NP_002519.1:n.549+2T>G
NM_002528.6:c.549+2T>G	NP_002519.1:n.549+2T>G
ENST00000219066.5:c.549+2T>G	ENSP00000219066.1:n.549+2T>G
ENST00000561841.1:c.445+2T>G
ENST00000562120.1:n.258+2T>G
ENST00000565406.5:n.197+2T>G
ENST00000566380.5:c.318-902T>G
ENST00000568513.5:c.344+2T>G
ENST00000651522.1:c.234+2T>G	ENSP00000498290.1:n.234+2T>G
ENST00000651583.1:c.310-902T>G	ENSP00000498821.1:n.310-902T>G
XM_011522505.1:c.379-902T>G	XP_011520807.1:n.379-902T>G
XM_017023253.1:c.549+2T>G	XP_016878742.1:n.549+2T>G