Canonical Allele Identifier: CA406404856
Gene: RSPH6A HGNC NCBI

Linked Data

ClinVar Variation Id: 2246773
ClinVar RCV Id: RCV004106444
dbSNP Id: rs1970511968
gnomAD v4: 19-45804391-T-A
MyVariant Identifiers: chr19:g.46307649T>A (hg19) chr19:g.45804391T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804391T>A , CM000681.2:g.45804391T>A GRCh38
NC_000019.9:g.46307649T>A , CM000681.1:g.46307649T>A GRCh37
NC_000019.8:g.50999489T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1514A>T MANE Select ENSP00000221538.2:p.Glu505Val
ENST00000221538.7:c.1514A>T ENSP00000221538.2:p.Glu505Val
ENST00000597055.1:c.1514A>T ENSP00000472630.1:p.Glu505Val
ENST00000600188.5:c.722A>T ENSP00000471559.1:p.Glu241Val
NM_030785.3:c.1514A>T NP_110412.1:p.Glu505Val
XM_011527351.1:c.1514A>T XP_011525653.1:p.Glu505Val
XM_011527351.2:c.1514A>T XP_011525653.1:p.Glu505Val
NM_030785.4:c.1514A>T MANE Select NP_110412.1:p.Glu505Val
Search 100 bp 5'
Search 100 bp 3'