Canonical Allele Identifier: CA2631110944

Gene: NTHL1 TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2047566A>G , CM000678.2:g.2047566A>G	GRCh38
NC_000016.9:g.2097567A>G , CM000678.1:g.2097567A>G	GRCh37
NC_000016.8:g.2037568A>G	NCBI36
NG_005895.1:g.3261A>G , LRG_487:g.3261A>G
NG_008412.1:g.5301T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.115+143T>C (NTHL1) MANE Select	NP_002519.2:n.115+143T>C
ENST00000651570.2:c.115+143T>C (NTHL1) MANE Select	ENSP00000498421.1:n.115+143T>C
NM_001318193.1:c.139+143T>C (NTHL1)	NP_001305122.1:n.139+143T>C
NM_001318193.2:c.115+143T>C (NTHL1)	NP_001305122.2:n.115+143T>C
NM_001318194.1:c.-64+143T>C (NTHL1)	NP_001305123.1:n.-64+143T>C
NM_001318194.2:c.-64+143T>C (NTHL1)	NP_001305123.1:n.-64+143T>C
NM_002528.5:c.139+143T>C (NTHL1)	NP_002519.1:n.139+143T>C
NM_002528.6:c.139+143T>C (NTHL1)	NP_002519.1:n.139+143T>C
ENST00000219066.5:c.139+143T>C (NTHL1)	ENSP00000219066.1:n.139+143T>C
ENST00000219476.7:c.-529A>G (TSC2)	ENSP00000219476.3:n.-529A>G
ENST00000561841.1:c.35+143T>C (NTHL1)
ENST00000566380.5:c.78+143T>C (NTHL1)
ENST00000568513.5:c.86+143T>C (NTHL1)
ENST00000623977.1:n.282T>C (NTHL1)
ENST00000651583.1:c.70+143T>C (NTHL1)	ENSP00000498821.1:n.70+143T>C
XM_011522505.1:c.139+143T>C (NTHL1)	XP_011520807.1:n.139+143T>C
XM_017023253.1:c.139+143T>C (NTHL1)	XP_016878742.1:n.139+143T>C