Canonical Allele Identifier: CA452982831

Gene: RSPH3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158999809T>A , CM000668.2:g.158999809T>A	GRCh38
NC_000006.11:g.159420841T>A , CM000668.1:g.159420841T>A	GRCh37
NC_000006.10:g.159340829T>A	NCBI36
NG_051819.1:g.5379A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_031924.8:c.-259A>T MANE Select	NP_114130.4:n.-259A>T
ENST00000367069.7:c.-259A>T MANE Select	ENSP00000356036.1:n.-259A>T
NM_001346418.1:c.168A>T	NP_001333347.1:p.Pro56=
NM_031924.4:c.168A>T	NP_114130.3:p.Pro56=
NM_031924.5:c.168A>T	NP_114130.3:p.Pro56=
NM_031924.6:c.168A>T	NP_114130.3:p.Pro56=
NR_144434.1:n.379A>T
ENST00000252655.1:c.168A>T	ENSP00000252655.1:p.Pro56=
ENST00000367069.6:c.-259A>T	ENSP00000356036.1:n.-259A>T
XM_005267153.3:c.168A>T	XP_005267210.1:p.Pro56=
XM_024446566.1:c.-561A>T	XP_024302334.1:n.-561A>T
XR_001743668.2:n.618A>T
XR_001743669.2:n.618A>T
XR_001743670.2:n.618A>T
XR_245553.2:n.624A>T