Canonical Allele Identifier: CA394298322

Gene: NTHL1 TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2047733G>A , CM000678.2:g.2047733G>A	GRCh38
NC_000016.9:g.2097734G>A , CM000678.1:g.2097734G>A	GRCh37
NC_000016.8:g.2037735G>A	NCBI36
NG_005895.1:g.3428G>A , LRG_487:g.3428G>A
NG_008412.1:g.5134C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.91C>T (NTHL1) MANE Select	NP_002519.2:p.Leu31Phe
ENST00000651570.2:c.91C>T (NTHL1) MANE Select	ENSP00000498421.1:p.Leu31Phe
NM_001318193.1:c.115C>T (NTHL1)	NP_001305122.1:p.Leu39Phe
NM_001318193.2:c.91C>T (NTHL1)	NP_001305122.2:p.Leu31Phe
NM_001318194.1:c.-88C>T (NTHL1)	NP_001305123.1:n.-88C>T
NM_001318194.2:c.-88C>T (NTHL1)	NP_001305123.1:n.-88C>T
NM_002528.5:c.115C>T (NTHL1)	NP_002519.1:p.Leu39Phe
NM_002528.6:c.115C>T (NTHL1)	NP_002519.1:p.Leu39Phe
ENST00000219066.5:c.115C>T (NTHL1)	ENSP00000219066.1:p.Leu39Phe
ENST00000219476.7:c.-362G>A (TSC2)	ENSP00000219476.3:n.-362G>A
ENST00000561841.1:c.11C>T (NTHL1)
ENST00000566380.5:c.54C>T (NTHL1)
ENST00000568513.5:c.62C>T (NTHL1)
ENST00000623977.1:n.115C>T (NTHL1)
ENST00000651583.1:c.46C>T (NTHL1)	ENSP00000498821.1:p.Leu16Phe
XM_011522505.1:c.115C>T (NTHL1)	XP_011520807.1:p.Leu39Phe
XM_017023253.1:c.115C>T (NTHL1)	XP_016878742.1:p.Leu39Phe