Canonical Allele Identifier: CA2338615020

Gene: RSPH6A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804409A= , CM000681.2:g.45804409A=	GRCh38
NC_000019.9:g.46307667A= , CM000681.1:g.46307667A=	GRCh37
NC_000019.8:g.50999507A=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1496T= MANE Select	ENSP00000221538.2:p.Phe499=
ENST00000221538.7:c.1496T=	ENSP00000221538.2:p.Phe499=
ENST00000597055.1:c.1496T=	ENSP00000472630.1:p.Phe499=
ENST00000600188.5:c.704T=	ENSP00000471559.1:p.Phe235=
NM_030785.3:c.1496T=	NP_110412.1:p.Phe499=
XM_011527351.1:c.1496T=	XP_011525653.1:p.Phe499=
XM_011527351.2:c.1496T=	XP_011525653.1:p.Phe499=
NM_030785.4:c.1496T= MANE Select	NP_110412.1:p.Phe499=