Canonical Allele Identifier: CA027431

Gene: NTHL1 TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2047721C>G , CM000678.2:g.2047721C>G	GRCh38
NC_000016.9:g.2097722C>G , CM000678.1:g.2097722C>G	GRCh37
NC_000016.8:g.2037723C>G	NCBI36
NG_005895.1:g.3416C>G , LRG_487:g.3416C>G
NG_008412.1:g.5146G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.103G>C (NTHL1) MANE Select	NP_002519.2:p.Glu35Gln
ENST00000651570.2:c.103G>C (NTHL1) MANE Select	ENSP00000498421.1:p.Glu35Gln
NM_001318193.1:c.127G>C (NTHL1)	NP_001305122.1:p.Glu43Gln
NM_001318193.2:c.103G>C (NTHL1)	NP_001305122.2:p.Glu35Gln
NM_001318194.1:c.-76G>C (NTHL1)	NP_001305123.1:n.-76G>C
NM_001318194.2:c.-76G>C (NTHL1)	NP_001305123.1:n.-76G>C
NM_002528.5:c.127G>C (NTHL1)	NP_002519.1:p.Glu43Gln
NM_002528.6:c.127G>C (NTHL1)	NP_002519.1:p.Glu43Gln
ENST00000219066.5:c.127G>C (NTHL1)	ENSP00000219066.1:p.Glu43Gln
ENST00000219476.7:c.-374C>G (TSC2)	ENSP00000219476.3:n.-374C>G
ENST00000561841.1:c.23G>C (NTHL1)
ENST00000566380.5:c.66G>C (NTHL1)
ENST00000568513.5:c.74G>C (NTHL1)
ENST00000623977.1:n.127G>C (NTHL1)
ENST00000651583.1:c.58G>C (NTHL1)	ENSP00000498821.1:p.Glu20Gln
XM_011522505.1:c.127G>C (NTHL1)	XP_011520807.1:p.Glu43Gln
XM_017023253.1:c.127G>C (NTHL1)	XP_016878742.1:p.Glu43Gln