Canonical Allele Identifier: CA027520

Gene: NTHL1 TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2047708C>T , CM000678.2:g.2047708C>T	GRCh38
NC_000016.9:g.2097709C>T , CM000678.1:g.2097709C>T	GRCh37
NC_000016.8:g.2037710C>T	NCBI36
NG_005895.1:g.3403C>T , LRG_487:g.3403C>T
NG_008412.1:g.5159G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.115+1G>A (NTHL1) MANE Select	NP_002519.2:n.115+1G>A
ENST00000651570.2:c.115+1G>A (NTHL1) MANE Select	ENSP00000498421.1:n.115+1G>A
NM_001318193.1:c.139+1G>A (NTHL1)	NP_001305122.1:n.139+1G>A
NM_001318193.2:c.115+1G>A (NTHL1)	NP_001305122.2:n.115+1G>A
NM_001318194.1:c.-64+1G>A (NTHL1)	NP_001305123.1:n.-64+1G>A
NM_001318194.2:c.-64+1G>A (NTHL1)	NP_001305123.1:n.-64+1G>A
NM_002528.5:c.139+1G>A (NTHL1)	NP_002519.1:n.139+1G>A
NM_002528.6:c.139+1G>A (NTHL1)	NP_002519.1:n.139+1G>A
ENST00000219066.5:c.139+1G>A (NTHL1)	ENSP00000219066.1:n.139+1G>A
ENST00000219476.7:c.-387C>T (TSC2)	ENSP00000219476.3:n.-387C>T
ENST00000561841.1:c.35+1G>A (NTHL1)
ENST00000566380.5:c.78+1G>A (NTHL1)
ENST00000568513.5:c.86+1G>A (NTHL1)
ENST00000623977.1:n.140G>A (NTHL1)
ENST00000651583.1:c.70+1G>A (NTHL1)	ENSP00000498821.1:n.70+1G>A
XM_011522505.1:c.139+1G>A (NTHL1)	XP_011520807.1:n.139+1G>A
XM_017023253.1:c.139+1G>A (NTHL1)	XP_016878742.1:n.139+1G>A