Canonical Allele Identifier: CA2338615028

Gene: RSPH6A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804425C= , CM000681.2:g.45804425C=	GRCh38
NC_000019.9:g.46307683C= , CM000681.1:g.46307683C=	GRCh37
NC_000019.8:g.50999523C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1480G= MANE Select	ENSP00000221538.2:p.Val494=
ENST00000221538.7:c.1480G=	ENSP00000221538.2:p.Val494=
ENST00000597055.1:c.1480G=	ENSP00000472630.1:p.Val494=
ENST00000600188.5:c.688G=	ENSP00000471559.1:p.Val230=
NM_030785.3:c.1480G=	NP_110412.1:p.Val494=
XM_011527351.1:c.1480G=	XP_011525653.1:p.Val494=
XM_011527351.2:c.1480G=	XP_011525653.1:p.Val494=
NM_030785.4:c.1480G= MANE Select	NP_110412.1:p.Val494=