Canonical Allele Identifier: CA406404932
Gene: RSPH6A HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.46307682A>G (hg19) chr19:g.45804424A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804424A>G , CM000681.2:g.45804424A>G GRCh38
NC_000019.9:g.46307682A>G , CM000681.1:g.46307682A>G GRCh37
NC_000019.8:g.50999522A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1481T>C MANE Select ENSP00000221538.2:p.Val494Ala
ENST00000221538.7:c.1481T>C ENSP00000221538.2:p.Val494Ala
ENST00000597055.1:c.1481T>C ENSP00000472630.1:p.Val494Ala
ENST00000600188.5:c.689T>C ENSP00000471559.1:p.Val230Ala
NM_030785.3:c.1481T>C NP_110412.1:p.Val494Ala
XM_011527351.1:c.1481T>C XP_011525653.1:p.Val494Ala
XM_011527351.2:c.1481T>C XP_011525653.1:p.Val494Ala
NM_030785.4:c.1481T>C MANE Select NP_110412.1:p.Val494Ala
Search 100 bp 5'
Search 100 bp 3'