Canonical Allele Identifier: CA394298863

Gene: NTHL1 TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2047838G>A , CM000678.2:g.2047838G>A	GRCh38
NC_000016.9:g.2097839G>A , CM000678.1:g.2097839G>A	GRCh37
NC_000016.8:g.2037840G>A	NCBI36
NG_005895.1:g.3533G>A , LRG_487:g.3533G>A
NG_008412.1:g.5029C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001318193.1:c.10C>T (NTHL1)	NP_001305122.1:p.Pro4Ser
NM_001318194.1:c.-193C>T (NTHL1)	NP_001305123.1:n.-193C>T
NM_002528.5:c.10C>T (NTHL1)	NP_002519.1:p.Pro4Ser
NM_002528.6:c.10C>T (NTHL1)	NP_002519.1:p.Pro4Ser
ENST00000219066.5:c.10C>T (NTHL1)	ENSP00000219066.1:p.Pro4Ser
ENST00000219476.7:c.-257G>A (TSC2)	ENSP00000219476.3:n.-257G>A
ENST00000623977.1:n.10C>T (NTHL1)
XM_011522505.1:c.10C>T (NTHL1)	XP_011520807.1:p.Pro4Ser
XM_011522638.2:c.17G>A (TSC2)	XP_011520940.2:p.Gly6Glu
XM_017023253.1:c.10C>T (NTHL1)	XP_016878742.1:p.Pro4Ser
XM_017023617.1:c.17G>A (TSC2)	XP_016879106.1:p.Gly6Glu