Canonical Allele Identifier: CA6530593

Gene: RPAP3

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47697647C>T , CM000674.2:g.47697647C>T	GRCh38
NC_000012.11:g.48091430C>T , CM000674.1:g.48091430C>T	GRCh37
NC_000012.10:g.46377697C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_024604.3:c.367G>A MANE Select	NP_078880.2:p.Glu123Lys
ENST00000005386.8:c.367G>A MANE Select	ENSP00000005386.3:p.Glu123Lys
NM_001146075.1:c.367G>A	NP_001139547.1:p.Glu123Lys
NM_001146075.2:c.367G>A	NP_001139547.1:p.Glu123Lys
NM_001146076.1:c.-111G>A	NP_001139548.1:n.-111G>A
NM_001146076.2:c.-111G>A	NP_001139548.1:n.-111G>A
NM_024604.2:c.367G>A	NP_078880.2:p.Glu123Lys
ENST00000005386.7:c.367G>A	ENSP00000005386.3:p.Glu123Lys
ENST00000380650.4:c.367G>A	ENSP00000370024.4:p.Glu123Lys
ENST00000432584.7:c.-111G>A	ENSP00000401823.3:n.-111G>A
ENST00000548296.1:n.55G>A
XM_011538741.3:c.-623G>A	XP_011537043.1:n.-623G>A