Canonical Allele Identifier: CA2338615005
Gene: RSPH6A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804377C= , CM000681.2:g.45804377C= GRCh38
NC_000019.9:g.46307635C= , CM000681.1:g.46307635C= GRCh37
NC_000019.8:g.50999475C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1528G= MANE Select ENSP00000221538.2:p.Glu510=
ENST00000221538.7:c.1528G= ENSP00000221538.2:p.Glu510=
ENST00000597055.1:c.1528G= ENSP00000472630.1:p.Glu510=
ENST00000600188.5:c.736G= ENSP00000471559.1:p.Glu246=
NM_030785.3:c.1528G= NP_110412.1:p.Glu510=
XM_011527351.1:c.1528G= XP_011525653.1:p.Glu510=
XM_011527351.2:c.1528G= XP_011525653.1:p.Glu510=
NM_030785.4:c.1528G= MANE Select NP_110412.1:p.Glu510=