Canonical Allele Identifier: CA027634

Gene: NTHL1 TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2047828G>C , CM000678.2:g.2047828G>C	GRCh38
NC_000016.9:g.2097829G>C , CM000678.1:g.2097829G>C	GRCh37
NC_000016.8:g.2037830G>C	NCBI36
NG_005895.1:g.3523G>C , LRG_487:g.3523G>C
NG_008412.1:g.5039C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002528.7:c.-5C>G (NTHL1) MANE Select	NP_002519.2:n.-5C>G
ENST00000651570.2:c.-5C>G (NTHL1) MANE Select	ENSP00000498421.1:n.-5C>G
NM_001318193.1:c.20C>G (NTHL1)	NP_001305122.1:p.Ser7Cys
NM_001318193.2:c.-5C>G (NTHL1)	NP_001305122.2:n.-5C>G
NM_001318194.1:c.-183C>G (NTHL1)	NP_001305123.1:n.-183C>G
NM_001318194.2:c.-183C>G (NTHL1)	NP_001305123.1:n.-183C>G
NM_002528.5:c.20C>G (NTHL1)	NP_002519.1:p.Ser7Cys
NM_002528.6:c.20C>G (NTHL1)	NP_002519.1:p.Ser7Cys
ENST00000219066.5:c.20C>G (NTHL1)	ENSP00000219066.1:p.Ser7Cys
ENST00000219476.7:c.-267G>C (TSC2)	ENSP00000219476.3:n.-267G>C
ENST00000623977.1:n.20C>G (NTHL1)
XM_011522505.1:c.20C>G (NTHL1)	XP_011520807.1:p.Ser7Cys
XM_011522638.2:c.7G>C (TSC2)	XP_011520940.2:p.Asp3His
XM_017023253.1:c.20C>G (NTHL1)	XP_016878742.1:p.Ser7Cys
XM_017023617.1:c.7G>C (TSC2)	XP_016879106.1:p.Asp3His