Canonical Allele Identifier: CA144908

Gene: RSPH1

Linked Data

• ClinVar Variation Id: 66988
• ClinVar RCV Id: RCV000057510 ; RCV003534322
• dbSNP Id: rs587777058
• gnomAD v4: 21-42485807-G-T
• MyVariant Identifiers: chr21:g.43905917G>T (hg19) ; chr21:g.42485807G>T (hg38)
• PubMed: PMID:20301301 ; PMID:23993197

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42485807G>T , CM000683.2:g.42485807G>T	GRCh38
NC_000021.8:g.43905917G>T , CM000683.1:g.43905917G>T	GRCh37
NC_000021.7:g.42778986G>T	NCBI36
NG_034257.1:g.15548C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291536.8:c.366-3C>A MANE Select	ENSP00000291536.3:n.366-3C>A
ENST00000291536.7:c.366-3C>A	ENSP00000291536.3:n.366-3C>A
ENST00000398352.3:c.252-3C>A	ENSP00000381395.3:n.252-3C>A
ENST00000493019.1:n.989C>A
NM_001286506.1:c.252-3C>A	NP_001273435.1:n.252-3C>A
NM_080860.3:c.366-3C>A	NP_543136.1:n.366-3C>A
XM_005261208.1:c.159-3C>A	XP_005261265.1:n.159-3C>A
XM_011529786.1:c.366-3C>A	XP_011528088.1:n.366-3C>A
XM_005261208.2:c.159-3C>A	XP_005261265.1:n.159-3C>A
NM_080860.4:c.366-3C>A MANE Select	NP_543136.1:n.366-3C>A
NM_001286506.2:c.252-3C>A	NP_001273435.1:n.252-3C>A