Canonical Allele Identifier: CA4075840

Gene: RSPH3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158980948G>A , CM000668.2:g.158980948G>A	GRCh38
NC_000006.11:g.159401980G>A , CM000668.1:g.159401980G>A	GRCh37
NC_000006.10:g.159321968G>A	NCBI36
NG_051819.1:g.24240C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_031924.8:c.697-12C>T MANE Select	NP_114130.4:n.697-12C>T
ENST00000367069.7:c.697-12C>T MANE Select	ENSP00000356036.1:n.697-12C>T
NM_001346418.1:c.835-12C>T	NP_001333347.1:n.835-12C>T
NM_031924.4:c.1123-12C>T	NP_114130.3:n.1123-12C>T
NM_031924.5:c.1123-12C>T	NP_114130.3:n.1123-12C>T
NM_031924.6:c.1123-12C>T	NP_114130.3:n.1123-12C>T
NR_144434.1:n.1334-12C>T
ENST00000252655.1:c.1123-12C>T	ENSP00000252655.1:n.1123-12C>T
ENST00000367069.6:c.697-12C>T	ENSP00000356036.1:n.697-12C>T
ENST00000449822.5:c.409-12C>T	ENSP00000393195.1:n.409-12C>T
XM_005267153.3:c.835-12C>T	XP_005267210.1:n.835-12C>T
XM_017011347.2:c.307-12C>T	XP_016866836.1:n.307-12C>T
XM_024446566.1:c.307-12C>T	XP_024302334.1:n.307-12C>T
XR_001743668.2:n.1573-12C>T
XR_001743669.2:n.1573-12C>T
XR_001743670.2:n.1285-12C>T
XR_001743671.2:n.779-12C>T
XR_245553.2:n.1579-12C>T