Canonical Allele Identifier: CA027754

Gene: NTHL1 TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2047795G>C , CM000678.2:g.2047795G>C	GRCh38
NC_000016.9:g.2097796G>C , CM000678.1:g.2097796G>C	GRCh37
NC_000016.8:g.2037797G>C	NCBI36
NG_005895.1:g.3490G>C , LRG_487:g.3490G>C
NG_008412.1:g.5072C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.29C>G (NTHL1) MANE Select	NP_002519.2:p.Thr10Ser
ENST00000651570.2:c.29C>G (NTHL1) MANE Select	ENSP00000498421.1:p.Thr10Ser
NM_001318193.1:c.53C>G (NTHL1)	NP_001305122.1:p.Thr18Ser
NM_001318193.2:c.29C>G (NTHL1)	NP_001305122.2:p.Thr10Ser
NM_001318194.1:c.-150C>G (NTHL1)	NP_001305123.1:n.-150C>G
NM_001318194.2:c.-150C>G (NTHL1)	NP_001305123.1:n.-150C>G
NM_002528.5:c.53C>G (NTHL1)	NP_002519.1:p.Thr18Ser
NM_002528.6:c.53C>G (NTHL1)	NP_002519.1:p.Thr18Ser
ENST00000219066.5:c.53C>G (NTHL1)	ENSP00000219066.1:p.Thr18Ser
ENST00000219476.7:c.-300G>C (TSC2)	ENSP00000219476.3:n.-300G>C
ENST00000623977.1:n.53C>G (NTHL1)
XM_011522505.1:c.53C>G (NTHL1)	XP_011520807.1:p.Thr18Ser
XM_017023253.1:c.53C>G (NTHL1)	XP_016878742.1:p.Thr18Ser