Canonical Allele Identifier: CA2338615026
Gene: RSPH6A HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1481T= MANE Select ENSP00000221538.2:p.Val494=
ENST00000221538.7:c.1481T= ENSP00000221538.2:p.Val494=
ENST00000597055.1:c.1481T= ENSP00000472630.1:p.Val494=
ENST00000600188.5:c.689T= ENSP00000471559.1:p.Val230=
NM_030785.3:c.1481T= NP_110412.1:p.Val494=
XM_011527351.1:c.1481T= XP_011525653.1:p.Val494=
XM_011527351.2:c.1481T= XP_011525653.1:p.Val494=
NM_030785.4:c.1481T= MANE Select NP_110412.1:p.Val494=