Canonical Allele Identifier: CA406404931
Gene: RSPH6A HGNC NCBI

Linked Data

dbSNP Id: rs1600475125

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1481T>G MANE Select ENSP00000221538.2:p.Val494Gly
ENST00000221538.7:c.1481T>G ENSP00000221538.2:p.Val494Gly
ENST00000597055.1:c.1481T>G ENSP00000472630.1:p.Val494Gly
ENST00000600188.5:c.689T>G ENSP00000471559.1:p.Val230Gly
NM_030785.3:c.1481T>G NP_110412.1:p.Val494Gly
XM_011527351.1:c.1481T>G XP_011525653.1:p.Val494Gly
XM_011527351.2:c.1481T>G XP_011525653.1:p.Val494Gly
NM_030785.4:c.1481T>G MANE Select NP_110412.1:p.Val494Gly