Canonical Allele Identifier: CA346947

Gene: RSPH1

Linked Data

• ClinVar Variation Id: 208999
• ClinVar RCV Id: RCV000685549 ; RCV002223814 ; RCV002285012
• dbSNP Id: rs200382776
• ExAC: 21:43897396 C / T
• gnomAD v2: 21-43897396-C-T
• gnomAD v3: 21-42477286-C-T
• gnomAD v4: 21-42477286-C-T
• MyVariant Identifiers: chr21:g.43897396C>T (hg19) ; chr21:g.42477286C>T (hg38)
• PubMed: PMID:20301301

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42477286C>T , CM000683.2:g.42477286C>T	GRCh38
NC_000021.8:g.43897396C>T , CM000683.1:g.43897396C>T	GRCh37
NC_000021.7:g.42770465C>T	NCBI36
NG_034257.1:g.24069G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291536.8:c.727+5G>A MANE Select	ENSP00000291536.3:n.727+5G>A
ENST00000291536.7:c.727+5G>A	ENSP00000291536.3:n.727+5G>A
ENST00000398352.3:c.613+5G>A	ENSP00000381395.3:n.613+5G>A
ENST00000493019.1:n.2345+5G>A
NM_001286506.1:c.613+5G>A	NP_001273435.1:n.613+5G>A
NM_080860.3:c.727+5G>A	NP_543136.1:n.727+5G>A
XM_005261208.1:c.520+5G>A	XP_005261265.1:n.520+5G>A
XM_011529786.1:c.655+5G>A	XP_011528088.1:n.655+5G>A
XM_005261208.2:c.520+5G>A	XP_005261265.1:n.520+5G>A
NM_080860.4:c.727+5G>A MANE Select	NP_543136.1:n.727+5G>A
NM_001286506.2:c.613+5G>A	NP_001273435.1:n.613+5G>A