Canonical Allele Identifier: CA027827

Gene: NTHL1 TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2047780A>G , CM000678.2:g.2047780A>G	GRCh38
NC_000016.9:g.2097781A>G , CM000678.1:g.2097781A>G	GRCh37
NC_000016.8:g.2037782A>G	NCBI36
NG_005895.1:g.3475A>G , LRG_487:g.3475A>G
NG_008412.1:g.5087T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.44T>C (NTHL1) MANE Select	NP_002519.2:p.Leu15Pro
ENST00000651570.2:c.44T>C (NTHL1) MANE Select	ENSP00000498421.1:p.Leu15Pro
NM_001318193.1:c.68T>C (NTHL1)	NP_001305122.1:p.Leu23Pro
NM_001318193.2:c.44T>C (NTHL1)	NP_001305122.2:p.Leu15Pro
NM_001318194.1:c.-135T>C (NTHL1)	NP_001305123.1:n.-135T>C
NM_001318194.2:c.-135T>C (NTHL1)	NP_001305123.1:n.-135T>C
NM_002528.5:c.68T>C (NTHL1)	NP_002519.1:p.Leu23Pro
NM_002528.6:c.68T>C (NTHL1)	NP_002519.1:p.Leu23Pro
ENST00000219066.5:c.68T>C (NTHL1)	ENSP00000219066.1:p.Leu23Pro
ENST00000219476.7:c.-315A>G (TSC2)	ENSP00000219476.3:n.-315A>G
ENST00000566380.5:c.7T>C (NTHL1)
ENST00000568513.5:c.15T>C (NTHL1)
ENST00000623977.1:n.68T>C (NTHL1)
XM_011522505.1:c.68T>C (NTHL1)	XP_011520807.1:p.Leu23Pro
XM_017023253.1:c.68T>C (NTHL1)	XP_016878742.1:p.Leu23Pro