Canonical Allele Identifier: CA394298671

Gene: NTHL1 TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2047813A>T , CM000678.2:g.2047813A>T	GRCh38
NC_000016.9:g.2097814A>T , CM000678.1:g.2097814A>T	GRCh37
NC_000016.8:g.2037815A>T	NCBI36
NG_005895.1:g.3508A>T , LRG_487:g.3508A>T
NG_008412.1:g.5054T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.11T>A (NTHL1) MANE Select	NP_002519.2:p.Leu4Ter
ENST00000651570.2:c.11T>A (NTHL1) MANE Select	ENSP00000498421.1:p.Leu4Ter
NM_001318193.1:c.35T>A (NTHL1)	NP_001305122.1:p.Leu12Ter
NM_001318193.2:c.11T>A (NTHL1)	NP_001305122.2:p.Leu4Ter
NM_001318194.1:c.-168T>A (NTHL1)	NP_001305123.1:n.-168T>A
NM_001318194.2:c.-168T>A (NTHL1)	NP_001305123.1:n.-168T>A
NM_002528.5:c.35T>A (NTHL1)	NP_002519.1:p.Leu12Ter
NM_002528.6:c.35T>A (NTHL1)	NP_002519.1:p.Leu12Ter
ENST00000219066.5:c.35T>A (NTHL1)	ENSP00000219066.1:p.Leu12Ter
ENST00000219476.7:c.-282A>T (TSC2)	ENSP00000219476.3:n.-282A>T
ENST00000623977.1:n.35T>A (NTHL1)
XM_011522505.1:c.35T>A (NTHL1)	XP_011520807.1:p.Leu12Ter
XM_011522638.2:c.-9A>T (TSC2)	XP_011520940.2:n.-9A>T
XM_017023253.1:c.35T>A (NTHL1)	XP_016878742.1:p.Leu12Ter
XM_017023617.1:c.-9A>T (TSC2)	XP_016879106.1:n.-9A>T