Canonical Allele Identifier: CA4075779

Gene: RSPH3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158978342A>G , CM000668.2:g.158978342A>G	GRCh38
NC_000006.11:g.159399374A>G , CM000668.1:g.159399374A>G	GRCh37
NC_000006.10:g.159319362A>G	NCBI36
NG_051819.1:g.26846T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_031924.8:c.864T>C MANE Select	NP_114130.4:p.Ile288=
ENST00000367069.7:c.864T>C MANE Select	ENSP00000356036.1:p.Ile288=
NM_001346418.1:c.1002T>C	NP_001333347.1:p.Ile334=
NM_031924.4:c.1290T>C	NP_114130.3:p.Ile430=
NM_031924.5:c.1290T>C	NP_114130.3:p.Ile430=
NM_031924.6:c.1290T>C	NP_114130.3:p.Ile430=
NR_144434.1:n.1501T>C
ENST00000252655.1:c.1290T>C	ENSP00000252655.1:p.Ile430=
ENST00000367069.6:c.864T>C	ENSP00000356036.1:p.Ile288=
ENST00000449822.5:c.576T>C	ENSP00000393195.1:p.Ile192=
XM_005267153.3:c.1002T>C	XP_005267210.1:p.Ile334=
XM_017011347.2:c.474T>C	XP_016866836.1:p.Ile158=
XM_024446566.1:c.474T>C	XP_024302334.1:p.Ile158=
XR_001743668.2:n.1740T>C
XR_001743669.2:n.1740T>C
XR_001743670.2:n.1452T>C
XR_001743671.2:n.946T>C
XR_245553.2:n.1746T>C