Canonical Allele Identifier: CA366286047

Gene: RSPH3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158999946G>C , CM000668.2:g.158999946G>C	GRCh38
NC_000006.11:g.159420978G>C , CM000668.1:g.159420978G>C	GRCh37
NC_000006.10:g.159340966G>C	NCBI36
NG_051819.1:g.5242C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_031924.8:c.-396C>G MANE Select	NP_114130.4:n.-396C>G
ENST00000367069.7:c.-396C>G MANE Select	ENSP00000356036.1:n.-396C>G
NM_001346418.1:c.31C>G	NP_001333347.1:p.Leu11Val
NM_031924.4:c.31C>G	NP_114130.3:p.Leu11Val
NM_031924.5:c.31C>G	NP_114130.3:p.Leu11Val
NM_031924.6:c.31C>G	NP_114130.3:p.Leu11Val
NR_144434.1:n.242C>G
ENST00000252655.1:c.31C>G	ENSP00000252655.1:p.Leu11Val
ENST00000367069.6:c.-396C>G	ENSP00000356036.1:n.-396C>G
XM_005267153.3:c.31C>G	XP_005267210.1:p.Leu11Val
XR_001743668.2:n.481C>G
XR_001743669.2:n.481C>G
XR_001743670.2:n.481C>G
XR_245553.2:n.487C>G