Canonical Allele Identifier: CA1157718

Gene: TMEM79 SMG5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156285809C>T , CM000663.2:g.156285809C>T	GRCh38
NC_000001.10:g.156255600C>T , CM000663.1:g.156255600C>T	GRCh37
NC_000001.9:g.154522224C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_032323.3:c.583C>T (TMEM79) MANE Select	NP_115699.1:p.Arg195Cys
ENST00000405535.3:c.583C>T (TMEM79) MANE Select	ENSP00000384748.2:p.Arg195Cys
NM_001323617.1:c.-125+824G>A (SMG5)	NP_001310546.1:n.-125+824G>A
NM_001323617.2:c.-125+824G>A (SMG5)	NP_001310546.1:n.-125+824G>A
NM_032323.2:c.583C>T (TMEM79)	NP_115699.1:p.Arg195Cys
NR_026678.1:n.779C>T (TMEM79)
NR_026678.2:n.760C>T (TMEM79)
ENST00000295694.9:c.583C>T (TMEM79)	ENSP00000295694.5:p.Arg195Cys
ENST00000357501.6:c.42-451C>T (TMEM79)	ENSP00000350100.2:n.42-451C>T
ENST00000405535.2:c.583C>T (TMEM79)	ENSP00000384748.2:p.Arg195Cys
ENST00000456810.1:c.42-451C>T (TMEM79)	ENSP00000394736.1:n.42-451C>T
ENST00000463670.5:n.500C>T (TMEM79)
ENST00000495881.1:n.719C>T (TMEM79)