Canonical Allele Identifier: CA5161950

Gene: PGAP4 TMEM246-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101476959C>T , CM000671.2:g.101476959C>T	GRCh38
NC_000009.11:g.104239241C>T , CM000671.1:g.104239241C>T	GRCh37
NC_000009.10:g.103279062C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_032342.3:c.134G>A (PGAP4) MANE Select	NP_115718.1:p.Arg45Gln
ENST00000374848.8:c.134G>A (PGAP4) MANE Select	ENSP00000363981.3:p.Arg45Gln
NM_001303107.1:c.134G>A (PGAP4)	NP_001290036.1:p.Arg45Gln
NM_001303107.2:c.134G>A (PGAP4)	NP_001290036.1:p.Arg45Gln
NM_001303108.1:c.134G>A (PGAP4)	NP_001290037.1:p.Arg45Gln
NM_001303108.2:c.134G>A (PGAP4)	NP_001290037.1:p.Arg45Gln
NM_001371233.1:c.134G>A (PGAP4)	NP_001358162.1:p.Arg45Gln
NM_032342.2:c.134G>A (PGAP4)	NP_115718.1:p.Arg45Gln
NR_121573.1:n.337+1917C>T (TMEM246-AS1)
NR_121574.1:n.300-2881C>T (TMEM246-AS1)
NR_121575.1:n.300-4404C>T (TMEM246-AS1)
NR_121576.1:n.171-2881C>T (TMEM246-AS1)
ENST00000374847.5:c.134G>A (PGAP4)	ENSP00000363980.1:p.Arg45Gln
ENST00000374848.7:c.134G>A (PGAP4)	ENSP00000363981.3:p.Arg45Gln
ENST00000374851.1:c.134G>A (PGAP4)	ENSP00000363984.1:p.Arg45Gln
XM_017015206.1:c.134G>A (PGAP4)	XP_016870695.1:p.Arg45Gln
XM_024447701.1:c.134G>A (PGAP4)	XP_024303469.1:p.Arg45Gln